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bihealth / reev

REEV: Explanation and Evaluation of Variants
MIT License
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Review modifier options for seqvar ACMG tool #340

Open holtgrewe opened 9 months ago

holtgrewe commented 9 months ago

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

xiamaz commented 7 months ago

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 commented 7 months ago

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.