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  • 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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  • 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

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Recent Posts

  • 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

Tag Cloud

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