Clinical Domain Working Groups

FBN1 Variant Curation Expert Panel

Membership Documents

The goal of this Expert Panel is to:

  1. Specify the ACMG/AMP sequence variant classification criteria for the Fibrillin-1 gene in association with Marfan syndrome and HTAAD.
  2. 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

Step 1
Step 2
Step 3
Step 4
Define Group
Completed Mar. 2019
Develop Classification Rules
Completed Aug. 2019
Pilot Rules
In progress
Expert Panel Approval

Documents

Expert Panel Membership

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