PAH Variant Curation Expert Panel


Expert Status - In progress

Step 1
Step 2
Step 3
Step 4
Define Group
Complete
Develop Classification Rules
Completed
Pilot Rules
In progress
Expert Panel Approval

Leadership

William J. Craigen, MD, PhD

Rong Mao, MD

Robert D. Steiner, MD


Coordinators

Please contact a coordinator if you have questions.

Meredith Weaver PhD, ScM, CGC
mweaver@acmg.net


Membership

22 members contribute to the PAH Variant EP. All Members
What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.