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

4 members contribute to the Inborn Errors of Metabolism CDWG. All Members
What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.


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.