iobio / gene.iobio

Gene.iobio vue
MIT License
55 stars 11 forks source link

ACMG should probably show only ClinVar pathogenic/likely pathogenic variants as default filter. Need to show variants for Proband, Mother and Father. #52

Closed tonydisera closed 3 years ago

tonydisera commented 6 years ago

Marti suggested into today's meeting that we break the ACMG filters into 'Pathogenic', 'LOF', and 'VUS'.

AlistairNWard commented 3 years ago

Our filters are based on the values in ClinVar and we should probably just stick to those, rather than trying to interpret them to other values.