Aminoacidopathy Variant Curation Expert Panel


Expert Status - In progress

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

Leadership

William J. Craigen, MD, PhD


Coordinators

Please contact a coordinator if you have questions.

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


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

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


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.