Clinical Domain Working Groups

Mitochondrial Disease Variant Curation Expert Panel


Expert curation to assess variant pathogenicity in the most prevalent and/or actionable causes of Leigh syndrome, Leigh-like syndrome, and pediatric-onset mitochondrial encephalopathy syndromes in both nuclear and mitochondrial DNA will be performed, and facilitated by utilization of the Mitochondrial Disease Sequence Data Resource, MSeqDR. Over time, we will continue to broaden our focus to include variant curation for additional causes of primary mitochondrial diseases.

Expert Panel Status

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

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.


Please contact a coordinator if you have questions.