Replies: 0 comments 4 replies
-
Furthermore, absence or low frequency in gnomAD should be classified as a supporting criteria: PM2_sup https://clinicalgenome.org/site/assets/files/5182/pm2_-_svi_recommendation_-_approved_sept2020.pdf |
Beta Was this translation helpful? Give feedback.
1 reply
-
I wonder how the additional grading would work UI wise. It looks to me that things would be complicated by this. We would have to add another three check boxes for each criterion. Doable but needs some mediation. |
Beta Was this translation helpful? Give feedback.
0 replies
-
#476 #477 |
Beta Was this translation helpful? Give feedback.
0 replies
Sign up for free
to join this conversation on GitHub.
Already have an account?
Sign in to comment
-
Based on the Clingen recommended ACMG criteria grading, i would suggest to update the VarFish ACMG lis:
"For strength-modified evidence, SVI recommends using the original criteria code followed by an underscore and new level of
strength. This shifting of criteria weight is especially important for quantitative evidence types."
Thus their should be the possibility to modify the strength evidence in the displayed "ACMG"-Box: strong, medium, supporting
https://clinicalgenome.org/site/assets/files/3459/svi_criteria_nomenclature_recommendation_v1.pdf
Beta Was this translation helpful? Give feedback.
All reactions