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  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system
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    pmc.ncbi.nlm.nih.gov/articles/PMC4867886/
  3. www.sciencedirect.com www.sciencedirect.com
    Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories
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    1. ClingenBaseline 23 Oct 2026

      DiseaseAssertion: Dilated Cardiomyopathy

      VariantPreviousTesting: ACTC1, ACTN2, CSRP3, LAMP2, MYBPC3, MYH7, NEXN, PLN, TNNC1, TNNI3, TNNT2, TPM1, ABCC9, CTF1, DES, EMD, LDB3, LMNA, MYH6, RBM20, SGCD, TAZ, TCAP, TTN, and VCL were all tested via NGS.

      VariantGenotypingMethod: Next-generation sequencing panels were used to sequence and read the genetic information of the 74 DCM probands for variants within exons and in +/- 10 nucleotides within the flanking introns of the genes provided above. These variants were then interpreted and filtered for pathogenicity.

      VariantAddInfo: Seen in two DCM probands and relatives

      Variant: NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)

      ClinVarID: 181278 https://www.ncbi.nlm.nih.gov/clinvar/variation/181278/

      gnomAD: Not in gnomAD

      Variant DiseaseEntity:DCM SupplementalData ClinVarID:181278 inferred_gene_hgnc:9386 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S152515781830357X