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Review modifier options for seqvar ACMG tool #340

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holtgrewe opened this issue Dec 22, 2023 · 2 comments
Open

Review modifier options for seqvar ACMG tool #340

holtgrewe opened this issue Dec 22, 2023 · 2 comments
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enhancement New feature or request
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@holtgrewe
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Is your feature request related to a problem? Please describe.
The selection options for the seqvar ACMG tool are not 100% compliant with most recent manuscripts.

Describe the solution you'd like
We should refine the options for selecting modifiers in the seqvar ACMG tool.

Describe alternatives you've considered
N/A

Additional context

@holtgrewe holtgrewe added the enhancement New feature or request label Dec 22, 2023
@holtgrewe holtgrewe added this to the 1.0.0 milestone Dec 22, 2023
@xiamaz
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xiamaz commented Feb 6, 2024

Newest ACGS Guidelines change a lot of stuff again: https://www.acgs.uk.com/media/12443/uk-practice-guidelines-for-variant-classification-v1-2023.pdf

For example PM2 has been upgraded to moderate, but this point is contentious to some degree

@xiamaz
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xiamaz commented Feb 6, 2024

Please just allow all grades (Very Strong, Strong, Moderate, Supporting) on all criteria. This is most flexible and anything outside sane standards should just create a warning message for the user.

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