ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
June 30, 2020 Dr. Lishuang SHEN 0
MSeqDR Consortium has been developing the mtDNA specifications for mitochondrial-coding genes, in collaboration with the ClinGen and ClinVar teams.
The mtDNA specifications were officially approved by the ClinGen Sequence Variant Interpretation Working Group on June 12, 2020.
These ACMG-oriented mtDNA SVI guidelines are being implemented into tools at https://mseqdr.org to aid in the clinical interpretation of variants. It will soon be available at variant annotation tool mvTool (mtDNA), and other more specific ACMG guideline compatible interpretation tools.
Categories: MSeqDr.org News, updates, media report
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