Clinical Domain Working Groups

VHL Variant Curation Expert Panel

Membership Documents

VISiON (VHL Informaton Sharing International Consortium) is a ClinGen Variant Curation Expert Panel focused on providing high quality, gene-specific variant interpretations for VHL, following ACMG-specified criteria. Von Hippel Lindau syndrome is an autosomal dominant familial cancer sydrome that is caused by variants in the VHL gene. Our expert panel members work with CIViC (Clinical Interpretation of Variants in Cancer) to curate evidence items from VHL-relevant publications, and we use literature curations as well as clinical laboratory data to provide expert interpretations for VHL variants.

Expert Panel Status

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Feb. 2018
Develop Classification Rules
Pilot Rules
Expert Panel Approval

Documents

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.


Chairs

Coordinators
Please contact a coordinator if you have questions.