In late 2020, the ClinGen Mitochondrial Disease Expert Panel updated the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Elizabeth McCormick, first author of the publication “Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation,” and Senior Genetic Counselor and Research Coordinator in the Mitochondrial Medicine Frontier Program at the Children’s Hospital of Philadelphia is joining us for a 1-hour session on all things mitochondrial.
Elizabeth will help us understand where the guidelines for mitochondrial DNA diverge from those for nuclear DNA, and why. Some guidelines are irrelevant for mtDNA and have been removed, some are unchanged, while others are newly specified.
She will briefly cover various technical aspects of calling and annotating mtDNA variants.
The webinar will also include a variant review session, where the new guidelines will be applied on 3 different clinical cases.
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