Clinical Domain Working Groups

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.