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
U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
- Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease
- gnoMAD shares mtDNA variant data from 56,434 whole genome samples
- mvTool v.6: The mtDNA variant reference based on 316,530 whole genome sequences
- MSeqDR is migrated to a new webserver at CHLA
- International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
- mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
- Recent publications from MSeqDR supported by the UMDF and NIH grants
- ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
- ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
- U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen