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
Develop Classification Rules
Completed
Pilot Rules
In progress
Expert Panel Approval
Chairs

Coordinators
Please contact a coordinator if you have questions.