Clinical Domain Working Groups
FBN1 Variant Curation Expert PanelMembership
The goal of this Expert Panel is to:
- Specify the ACMG/AMP sequence variant classification criteria for the Fibrillin-1 gene in association with Marfan syndrome and HTAAD.
- Once these specifications have been approved, use them to curate and classify FBN1 variants in the public domain, and submit to ClinVar at a three-star, expert panel status.
Expert Panel Status
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.