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.