+ Description: Contains protein-coding or other known functionally important elements. +
+Hint: Copy number loss content
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Loss1B
++ Description: Does NOT contain protein-coding or any known functionally important + elements. +
+Hint: [Provide a hint]
+Default Score: -0.6
+Max Score: -0.6
++ Conflicting Evidence: Loss1A, Loss2A, Loss2B, Loss2C1, Loss2C2, Loss2D1, Loss2D2, + Loss2D3, Loss2D4, Loss3B, Loss3C +
+Description: Complete overlap of an established HI gene or genomic region.
++ Hint: Overlap with ESTABLISHED HI genes or genomic regions and consideration of + reason for referral +
+Default Score: 1
+Min Score: 0
+Max Score: 1
+Conflicting Evidence: Loss1B, Loss2E, Loss2F, Loss2G, Loss2H
+Slider: true
+Description: Partial overlap of an established HI genomic region.
+Hint: Continue evaluation
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Loss1B, Loss2E, Loss2F, Loss2G, Loss2H
+Slider: false
++ Description: Partial overlap with the 5' end of an established HI gene (3' end of + the gene not involved) and coding sequence is involved. +
+Hint: Range: 0.45 - 1.0
+Default Score: 0.9
+Min Score: 0.45
+Max Score: 1
+Conflicting Evidence: Loss1B, Loss2E, Loss2F, Loss2G, Loss2H
+Slider: true
++ Description: Partial overlap with the 5' end of an established HI gene (3' end of + the gene not involved) and only the 5' UTR is involved. +
+Hint: Range: 0.45 - 1.0
+Default Score: 0
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: Loss1B, Loss2E, Loss2F, Loss2G, Loss2H
+Slider: true
++ Description: Partial overlap with the 3' end of an established HI gene (5' end of + the gene not involved) and only 3' untranslated region is involved. +
+Hint: Continue evaluation
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Loss1B, Loss2E, Loss2F, Loss2G, Loss2H
+Slider: false
++ Description: Partial overlap with the 3' end of an established HI gene (5' end of + the gene not involved) and only the last exon is involved. Other established + pathogenic variants have been reported in this exon. +
+Hint: Range: 0.45 - 0.9
+Default Score: 0.9
+Min Score: 0.45
+Max Score: 0.9
+Conflicting Evidence: Loss1B, Loss2E, Loss2F, Loss2G, Loss2H
+Slider: true
++ Description: Partial overlap with the 3' end of an established HI gene (5' end of + the gene not involved) and only the last exon is involved. No other established + pathogenic variants have been reported in this exon. +
+Hint: Range: 0.3 - 0.45
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: Loss1B, Loss2E, Loss2F, Loss2G, Loss2H
+Slider: true
++ Description: Partial overlap with the 3' end of an established HI gene (5' end of + the gene not involved) and it includes other exons in addition to the last exon. + Nonsense-mediated decay is expected to occur. +
+Hint: Range: 0.45 - 1.0
+Default Score: 0.9
+Min Score: 0.45
+Max Score: 1.0
+Conflicting Evidence: Loss1B, Loss2E, Loss2F, Loss2G, Loss2H
+Slider: true
++ Description: Both breakpoints are within the same gene (intragenic CNV; gene-level + sequence variant). +
+Hint: See ClinGen SVI working group PVS1 specifications
+Default Score: 0
+Min Score: 0
+Max Score: 0.9
++ Conflicting Evidence: Loss1B, Loss2A, Loss2B, Loss2C1, Loss2C2, Loss2D1, Loss2D2, + Loss2D3, Loss2D4, Loss2F, Loss2G, Loss2H +
+Slider: true
+Description: Completely contained within an established benign CNV region.
+Hint: Overlap with ESTABLISHED benign genes or genomic regions
+Default Score: -1
+Min Score: -1
+Max Score: 0
++ Conflicting Evidence: Loss2A, Loss2B, Loss2C1, Loss2C2, Loss2D1, Loss2D2, Loss2D3, + Loss2D4, Loss2E, Loss2G, Loss2H +
+Slider: true
++ Description: Overlaps an established benign CNV, but includes additional genomic + material. +
+Hint: Continue evaluation
+Default Score: 0
+Max Score: 0
++ Conflicting Evidence: Loss1B, Loss2A, Loss2B, Loss2C1, Loss2C2, Loss2D1, Loss2D2, + Loss2D3, Loss2D4, Loss2E, Loss2F, Loss2H +
+Slider: false
++ Description: Two or more HI predictors suggest that AT LEAST ONE gene in the + interval is HI. +
+Hint: Haploinsufficiency predictors
+Default Score: 0.15
+Max Score: 0.15
++ Conflicting Evidence: Loss1B, Loss2A, Loss2B, Loss2C1, Loss2C2, Loss2D1, Loss2D2, + Loss2D3, Loss2D4, Loss2E, Loss2F, Loss2G +
+Slider: true
+Description: 0-24 genes.
++ Hint: Number of protein-coding RefSeq genes wholly or partially included in the + copy-number loss +
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Loss3B, Loss3C
+Slider: false
+Description: 25-34 genes.
+Hint:
+Default Score: 0.45
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: Loss1B, Loss2E, Loss3A, Loss3C
+Slider: true
+Description: 35+ genes.
+Hint:
+Default Score: 0.9
+Min Score: 0.45
+Max Score: 0.9
+Conflicting Evidence: Loss1B, Loss2E, Loss3A, Loss3B
+Slider: true
++ Description: Reported proband has either a complete deletion of or a LOF variant + within a gene encompassed by the observed copy-number loss OR an overlapping + copy-number loss similar in genomic content to the observed copy-number loss AND the + reported phenotype is highly specific and relatively unique to the gene or genomic + region. +
++ Hint: Confirmed de novo: 0.45 points each Assumed de novo: 0.30 points each (range: + 0.15 to 0.45) +
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.9
+Conflicting Evidence: Loss4B, Loss4C
+Slider: true
++ Description: Reported proband has either a complete deletion of or a LOF variant + within a gene encompassed by the observed copy-number loss OR an overlapping + copy-number loss similar in genomic content to the observed copy-number loss AND the + reported phenotype is consistent with the gene/genomic region, is highly specific, + but not necessarily unique to the gene/genomic region. +
++ Hint: Confirmed de novo: 0.30 points each Assumed de novo: 0.15 point each (range: 0 + to 0.45) +
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.9
+Conflicting Evidence: Loss4A, Loss4C
+Slider: true
++ Description: Reported proband has either a complete deletion of or a LOF variant + within a gene encompassed by the observed copy-number loss OR an overlapping + copy-number loss similar in genomic content to the observed copy-number loss AND the + reported phenotype is consistent with the gene/genomic region, but not highly + specific and/or with high genetic heterogeneity. +
++ Hint: Confirmed de novo: 0.15 point each Assumed de novo: 0.10 point each (range: 0 + to 0.30) +
+Default Score: 0.15
+Min Score: 0
+Max Score: 0.9
+Conflicting Evidence: Loss4A, Loss4B
+Slider: true
++ Description: Reported proband has either a complete deletion of or a LOF variant + within a gene encompassed by the observed copy-number loss OR an overlapping + copy-number loss similar in genomic content to the observed copy-number loss AND the + reported phenotype is NOT consistent with what is expected for the gene/genomic + region or not consistent in general. +
+Hint: Individual case evidence — inconsistent phenotype (range: 0 to -0.3)
+Default Score: 0
+Min Score: -0.3
+Max Score: 0
+Conflicting Evidence: None
+Slider: true
++ Description: Reported proband has a highly specific phenotype consistent with the + gene/genomic region, but the inheritance of the variant is unknown. +
+Hint: Individual case evidence — unknown inheritance (range: 0 to 0.15)
+Default Score: 0.1
+Min Score: 0
+Max Score: 0.3
+Conflicting Evidence: None
+Slider: true
+Description: 3-4 observed segregations.
++ Hint: Individual case evidence — segregation among similarly affected family members +
+Default Score: 0.15
+Min Score: 0
+Max Score: 0.15
+Conflicting Evidence: None
+Slider: true
+Description: 5-6 observed segregations.
+Hint:
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.3
+Conflicting Evidence: None
+Slider: true
+Description: 7+ observed segregations.
+Hint:
+Default Score: 0.45
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: None
+Slider: true
++ Description: Variant is NOT found in another individual in the proband's family + AFFECTED with a consistent, specific, well-defined phenotype (no known phenocopies). +
++ Hint: Individual case evidence — nonsegregations -0.45 points per family (range: 0 + to -0.45) +
+Default Score: -0.45
+Min Score: -0.9
+Max Score: 0
+Conflicting Evidence: None
+Slider: true
++ Description: Variant IS found in another individual in the proband's family + UNAFFECTED with the specific, well-defined phenotype observed in the proband. +
+Hint: -0.30 points per family (range: 0 to -0.30)
+Default Score: -0.3
+Min Score: -0.9
+Max Score: 0
+Conflicting Evidence: None
+Slider: true
++ Description: Variant IS found in another individual in the proband's family + UNAFFECTED with the nonspecific phenotype observed in the proband +
+Hint: -0.15 points per family (range: 0 to -0.15)
+Default Score: -0.15
+Min Score: -0.3
+Max Score: 0
+Conflicting Evidence: None
+Slider: true
++ Description: Statistically significant increase amongst observations in cases (with + a consistent, specific, well-defined phenotype) compared with controls. +
++ Hint: Case-control and population evidence. 0.45 per study (range: 0 to 0.45 per + study) +
+Default Score: 0.45
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: None
+Slider: true
++ Description: Statistically significant increase amongst observations in cases + (without a consistent, nonspecific phenotype OR unknown phenotype) compared with + controls. +
+Hint: 0.30 per study (range: 0 to 0.30 per study)
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: None
+Slider: true
++ Description: No statistically significant difference between observations in cases + and controls. +
+Hint: -0.90 (per study) (range: 0 to -0.90 per study)
+Default Score: -0.9
+Min Score: -0.9
+Max Score: 0
+Conflicting Evidence: None
+Slider: true
+Description: Overlap with common population variation.
+Hint: (range: 0 to -1)
+Default Score: -0.9
+Min Score: -0.9
+Max Score: 0
+Conflicting Evidence: None
+Slider: true
++ Description: Use appropriate category from de novo scoring section in section 4. +
++ Hint: Observed copy-number loss is de novo. Use de novo scoring categories from + section 4 (4A-4D) to determine score +
+Default Score: 0
+Min Score: 0
+Max Score: 0.45
++ Conflicting Evidence: Loss 5B, Loss 5C, Loss 5D, Loss 5E, Loss 5F, Loss 5G, Loss 5H +
+Slider: true
++ Description: Patient with specific, well-defined phenotype and no family history. + CNV is inherited from an apparently unaffected parent. +
+Hint: Observed copy-number loss is inherited. (range: 0 to -0.45)
+Default Score: -0.3
+Min Score: -0.45
+Max Score: 0
++ Conflicting Evidence: Loss 5A, Loss 5C, Loss 5D, Loss 5E, Loss 5F, Loss 5G, Loss 5H +
+Slider: true
++ Description: Patient with nonspecific phenotype and no family history. CNV is + inherited from an apparently unaffected parent. +
+Hint: (range: 0 to -0.30)
+Default Score: -0.15
+Min Score: -0.3
+Max Score: 0
++ Conflicting Evidence: Loss 5A, Loss 5B, Loss 5D, Loss 5E, Loss 5F, Loss 5G, Loss 5H +
+Slider: true
++ Description: CNV segregates with a consistent phenotype observed in the patient's + family. +
++ Hint: Use segregation scoring categories from section 4 (4F-4H) to determine score +
+Default Score: 0
+Min Score: 0
+Max Score: 0.45
++ Conflicting Evidence: Loss 5A, Loss 5B, Loss 5C, Loss 5E, Loss 5F, Loss 5G, Loss 5H +
+Slider: true
+Description: Use appropriate category from nonsegregation section in section 4.
++ Hint: Observed copy-number loss — nonsegregations. Use nonsegregation scoring + categories from section 4 (4I-4K) to determine score +
+Default Score: 0
+Min Score: -0.45
+Max Score: 0
++ Conflicting Evidence: Loss 5A, Loss 5B, Loss 5C, Loss 5D, Loss 5F, Loss 5G, Loss 5H +
+Slider: true
+Description: Inheritance information is unavailable or uninformative.
+Hint: Other
+Default Score: 0
+Max Score: 0
++ Conflicting Evidence: Loss 5A, Loss 5B, Loss 5C, Loss 5D, Loss 5E, Loss 5G, Loss 5H +
+Slider: false
++ Description: Inheritance information is unavailable or uninformative. The patient + phenotype is nonspecific, but is consistent with what has been described in similar + cases. +
+Hint: (range: 0 to 0.15)
+Default Score: 0.1
+Min Score: 0
+Max Score: 0.15
++ Conflicting Evidence: Loss 5A, Loss 5B, Loss 5C, Loss 5D, Loss 5E, Loss 5F, Loss 5H +
+Slider: true
++ Description: Inheritance information is unavailable or uninformative. The patient + phenotype is highly specific and consistent with what has been described in similar + cases. +
+Hint: (range: 0 to 0.30)
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.3
++ Conflicting Evidence: Loss 5A, Loss 5B, Loss 5C, Loss 5D, Loss 5E, Loss 5F, Loss 5G +
+Slider: true
++ Description: Contains protein-coding or other known functionally important elements. +
+Hint: Copy number gain content (Continue evaluation)
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Gain 1B
+Slider: false
++ Description: Does NOT contain protein-coding or any known functionally important + elements. +
+Hint:
+Default Score: -0.6
+Max Score: -0.6
++ Conflicting Evidence: Gain 1A, Gain 2A, Gain 2B, Gain 2E, Gain 2G, Gain 2H, Gain 2I, + Gain 2J, Gain 2K, Gain 2L, Gain 3B, Gain 3C +
+Slider: false
++ Description: Complete overlap; the TS gene or minimal critical region is fully + contained within the observed copy-number gain. +
+Hint: Overlap with ESTABLISHED TS genes or genomic regions
+Default Score: 1
+Min Score: 0
+Max Score: 1
+Conflicting Evidence: Gain 1B, Gain 2C, Gain 2D, Gain 2E, Gain 2F, Gain 2I
+Slider: true
++ Description: Partial overlap of an established TS region • The observed CNV does NOT + contain the known causative gene or critical region for this established TS genomic + region OR • Unclear if the known causative gene or critical region is affected OR • + No specific causative gene or critical region has been established for this TS + genomic region. +
+Hint: Continue evaluation
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Gain 1B, Gain 2C, Gain 2D
+Slider: false
++ Description: Identical in gene content to the established benign copy-number gain. +
+Hint: Overlap with ESTABLISHED benign copy-number gain genes or genomic regions
+Default Score: -1
+Min Score: -1
+Max Score: 0
+Conflicting Evidence: Gain 2A, Gain 2B
+Slider: true
++ Description: Smaller than established benign copy-number gain, breakpoint(s) does + not interrupt protein-coding genes. +
+Hint:
+Default Score: -1
+Min Score: -1
+Max Score: 0
+Conflicting Evidence: Gain 2A, Gain 2B
+Slider: true
++ Description: Smaller than established benign copy-number gain, breakpoint(s) + potentially interrupts protein-coding gene. +
+Hint: Continue evaluation
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Gain 1B, Gain 2A
+Slider: false
++ Description: Larger than known benign copy-number gain, does not include additional + protein-coding genes. +
+Hint: (range: 0 to -1)
+Default Score: -0.9
+Min Score: -1
+Max Score: 0
+Conflicting Evidence: Gain 2A
+Slider: true
++ Description: Overlaps a benign copy-number gain but includes additional genomic + material. +
+Hint: Continue evaluation
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Gain 1B
+Slider: false
+Description: HI gene fully contained within the observed copy-number gain.
+Hint: Overlap with ESTABLISHED HI gene(s). Continue evaluation
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Gain 1B, Gain 2I
+Slider: false
++ Description: Both breakpoints are within the same gene (gene-level sequence variant, + possibly resulting in loss of function [LOF]). +
++ Hint: Breakpoint(s) within ESTABLISHED HI genes. See ClinGen SVI working group PVS1 + specifications • PVS1 = 0.90 (Range: 0.45 to 0.90) • PVS1_Strong = 0.45 (Range: 0.30 + to 0.90) • N/A = 0 (Continue evaluation) +
+Default Score: 0
+Min Score: 0
+Max Score: 0.9
+Conflicting Evidence: Gain 1B, Gain 2H, Gain 2J, Gain 2K
+Slider: true
++ Description: One breakpoint is within an established HI gene, patient's phenotype is + either inconsistent with what is expected for LOF of that gene OR unknown. +
+Hint: Continue evaluation
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Gain 1B, Gain 2I
+Slider: false
++ Description: One breakpoint is within an established HI gene, patient's phenotype is + highly specific and consistent with what is expected for LOF of that gene. +
+Hint:
+Default Score: 0.45
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: Gain 1B, Gain 2I
+Slider: true
++ Description: One or both breakpoints are within gene(s) of no established clinical + significance. +
+Hint: Breakpoints within other gene(s). Continue evaluation
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Gain 1B
+Slider: false
+Description: 0-34 genes.
++ Hint: Number of protein-coding RefSeq genes wholly or partially included in the + copy-number gain +
+Default Score: 0
+Max Score: 0
+Conflicting Evidence: Gain 3B, Gain 3C
+Slider: false
+Description: 35-49 genes.
+Hint:
+Default Score: 0.45
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: Gain 1B, Gain 2I, Gain 3A, Gain 3C
+Slider: true
+Description: 50+ genes.
+Hint:
+Default Score: 0.9
+Min Score: 0
+Max Score: 0.9
+Conflicting Evidence: Gain 1B, Gain 2I, Gain 3A, Gain 3B
+Slider: true
++ Description: Reported proband has either complete duplication of one or more genes + within the observed copy-number gain OR an overlapping copy-number gain similar in + genomic content to the observed copy-number gain AND the reported phenotype is + highly specific and relatively unique to the gene or genomic region. +
++ Hint: Confirmed de novo: 0.45 points each, Assumed de novo: 0.30 points each (range: + 0.15 to 0.45) +
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.9
+Conflicting Evidence: Gain 4B, Gain 4C, Gain 4D
+Slider: true
++ Description: Reported proband has either complete duplication of one or more genes + within the observed copy-number gain OR an overlapping copy-number gain similar in + genomic content to the observed copy-number gain AND the reported phenotype is + consistent with the gene/genomic region, is highly specific, but is not necessarily + unique to the gene/genomic region. +
++ Hint: Confirmed de novo: 0.30 points each, Assumed de novo: 0.15 point each (range: + 0 to 0.45) +
+Default Score: 0.15
+Min Score: 0
+Max Score: 0.9
+Conflicting Evidence: Gain 4A, Gain 4C, Gain 4D
+Slider: true
++ Description: Reported proband has either complete duplication of one or more genes + within the observed copy-number gain OR an overlapping copy-number gain similar in + genomic content to the observed copy-number gain AND the reported phenotype is + consistent with the gene/genomic region, but not highly specific and/or with high + genetic heterogeneity. +
++ Hint: Confirmed de novo: 0.15 point each, Assumed de novo: 0.10 point each (range: 0 + to 0.30) +
+Default Score: 0.15
+Min Score: 0
+Max Score: 0.9
+Conflicting Evidence: Gain 4A, Gain 4B, Gain 4D
+Slider: true
++ Description: Reported proband has either complete duplication of one or more genes + within the observed copy-number gain OR an overlapping copy-number gain similar in + genomic content to the observed copy-number gain AND the reported phenotype is NOT + consistent with the gene/genomic region or not consistent in general. +
++ Hint: Individual case evidence — inconsistent phenotype. 0 points each (range: 0 to + -0.30) +
+Default Score: 0
+Min Score: -0.3
+Max Score: 0
+Conflicting Evidence: Gain 4A, Gain 4B, Gain 4C
+Slider: true
++ Description: Reported proband has a highly specific phenotype consistent with the + gene/genomic region, but the inheritance of the variant is unknown. +
++ Hint: Individual case evidence — unknown inheritance. 0.10 points each (range: 0 to + 0.15) +
+Default Score: 0.1
+Min Score: 0
+Max Score: 0.3
+Conflicting Evidence: None
+Slider: true
+Description: 3-4 observed segregations.
++ Hint: Individual case evidence — segregation among similarly affected family members +
+Default Score: 0.15
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: Gain 4G, Gain 4H
+Slider: true
+Description: 5-6 observed segregations.
+Hint: None
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.3
+Conflicting Evidence: Gain 4F, Gain 4H
+Slider: true
+Description: 7+ observed segregations.
+Hint: None
+Default Score: 0.45
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: Gain 4F, Gain 4G
+Slider: true
++ Description: Variant is NOT found in another individual in the proband's family + AFFECTED with a consistent, specific, well-defined phenotype (no known phenocopies). +
++ Hint: Individual case evidence — nonsegregations. -0.45 points per family (range: 0 + to -0.45) +
+Default Score: -0.45
+Min Score: -0.9
+Max Score: 0
+Conflicting Evidence: Gain 4K
+Slider: true
++ Description: Variant IS found in another individual in the proband's family + UNAFFECTED with the specific, well-defined phenotype observed in the proband. +
+Hint: -0.30 points per family (range: 0 to -0.30)
+Default Score: -0.3
+Max Score: -0.9
+Conflicting Evidence: Gain 4K
+Slider: true
++ Description: Variant IS found in another individual in the proband's family + UNAFFECTED with the nonspecific phenotype observed in the proband. +
+Hint: -0.15 points per family (range: 0 to -0.15)
+Default Score: -0.15
+Min Score: -0.3
+Max Score: 0
+Conflicting Evidence: Gain 4I, Gain 4J
+Slider: true
++ Description: Statistically significant increase among observations in cases (with a + consistent, specific, well-defined phenotype) compared with controls. +
++ Hint: Case-control and population evidence. 0.45 per study (range: 0 to 0.45 per + study) +
+Default Score: 0.45
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: Gain 4M
+Slider: true
++ Description: Statistically significant increase among observations in cases (with a + consistent, nonspecific phenotype or unknown phenotype) compared with controls. +
+Hint: 0.30 per study (range: 0 to 0.30 per study)
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.45
+Conflicting Evidence: Gain 4L
+Slider: true
++ Description: No statistically significant difference between observations in cases + and controls. +
+Hint: -0.90 (per study) (range: 0 to -0.90 per study)
+Default Score: -0.9
+Min Score: -0.9
+Max Score: 0
+Conflicting Evidence: None
+Slider: true
+Description: Overlap with common population variation.
+Hint: (range: 0 to -1)
+Default Score: -0.9
+Min Score: -0.9
+Max Score: 0
+Conflicting Evidence: None
+Slider: true
++ Description: Use appropriate category from de novo scoring section in section 4. +
++ Hint: Observed copy-number gain is de novo. Use de novo scoring categories from + section 4 (4A-4D) to determine score +
+Default Score: 0
+Min Score: 0
+Max Score: 0.45
++ Conflicting Evidence: Gain 5B, Gain 5C, Gain 5D, Gain 5E, Gain 5F, Gain 5G, Gain 5H +
+Slider: true
++ Description: Patient with a specific, well-defined phenotype and no family history. + Copy-number gain is inherited from an apparently unaffected parent. +
+Hint: Observed copy-number gain is inherited. (range: 0 to -0.45)
+Default Score: -0.3
+Min Score: -0.45
+Max Score: 0
++ Conflicting Evidence: Gain 5A, Gain 5C, Gain 5D, Gain 5E, Gain 5F, Gain 5G, Gain 5H +
+Slider: true
++ Description: Patient with nonspecific phenotype and no family history. Copy-number + gain is inherited from an apparently unaffected parent. +
+Hint: (range: 0 to -0.30)
+Default Score: -0.15
+Min Score: -0.3
+Max Score: 0
++ Conflicting Evidence: Gain 5A, Gain 5B, Gain 5D, Gain 5E, Gain 5F, Gain 5G, Gain 5H +
+Slider: true
++ Description: CNV segregates with consistent phenotype observed in the patient's + family. +
++ Hint: Use segregation scoring categories from in section 4 (4F-4H) to determine + score +
+Default Score: 0.45
+Min Score: 0
+Max Score: 0.45
++ Conflicting Evidence: Gain 5A, Gain 5B, Gain 5C, Gain 5E, Gain 5F, Gain 5G, Gain 5H +
+Slider: true
+Description: Use appropriate category from nonsegregation section in section 4.
++ Hint: Observed copy-number gain — nonsegregations. Use nonsegregation scoring + categories from section 4 (4I-4K) to determine score +
+Default Score: -0.45
+Min Score: -0.45
+Max Score: 0
++ Conflicting Evidence: Gain 5A, Gain 5B, Gain 5C, Gain 5D, Gain 5F, Gain 5G, Gain 5H +
+Slider: true
+Description: Inheritance information is unavailable or uninformative.
+Hint: None
+Default Score: 0
+Max Score: 0
++ Conflicting Evidence: Gain 5A, Gain 5B, Gain 5C, Gain 5D, Gain 5E, Gain 5G, Gain 5H +
+Slider: false
++ Description: Inheritance information is unavailable or uninformative. The patient + phenotype is nonspecific, but is consistent with what has been described in similar + cases. +
+Hint: (range: 0 to 0.15)
+Default Score: 0.1
+Min Score: 0
+Max Score: 0.15
++ Conflicting Evidence: Gain 5A, Gain 5B, Gain 5C, Gain 5D, Gain 5E, Gain 5F, Gain 5H +
+Slider: true
++ Description: Inheritance information is unavailable or uninformative. The patient + phenotype is highly specific and consistent with what has been described in similar + cases. +
+Hint: (range: 0 to 0.30)
+Default Score: 0.3
+Min Score: 0
+Max Score: 0.3
++ Conflicting Evidence: Gain 5A, Gain 5B, Gain 5C, Gain 5D, Gain 5E, Gain 5F, Gain 5G +
+Slider: true
+