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    Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories
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    1. ClingenBaseline 23 Oct 2026

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      VariantPreviousTesting: ACTC1, ACTN2, CSRP3, LAMP2, MYBPC3, MYH7, NEXN, PLN, TNNC1, TNNI3, TNNT2, TPM1, CAV3, GLA, MYL2, MYL3, MYOZ2, PRKAG2, and TTR were all tested via NGS.

      VariantGenotypingMethod: Next-generation sequencing panels were used to sequence and read the genetic information of the 760 HCM 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 one HCM proband

      Variant: NM_000257.3:c.2714G>A (p.Cys905Tyr)

      CAID: CA389047298 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389047298

      gnomAD: Not in gnomAD

      Variant DiseaseEntity:HCM SupplementalData CAID:CA389047298 inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S152515781830357X