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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinicopathological and Genetic Profiles of Cases with Myocyte Disarray—Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy
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    1. ClingenBaseline 21 Oct 2026
      9

      Case: Case 9, male, 69yo

      CasePresentingHPOs: HP:0031318 (myocardial fiber disarray)

      HPOsFreeText: BMI = 25.2kg/m^2, cause of death: accidental head injury, heart weight = 624g, left ventricular thickness = 1.8cm, distribution of myocyte disarray in ventricular septum, area of disarray = 7.8%, grade of fibrosis = 3

      CaseNotHPOs: HP:0031296 (atrial septal hypertrophy)

      CasePreviousTesting: NGS of 81 cardiovascular disorder-related genes (Supplemental Table S1)

      CaseGenotypingMethod: genomic DNA extracted from whole blood, PCR, NGS of 81 cardiovascular disorder-related genes (Supplemental Table S1)

      Variant: NM_000257.4(MYH7):c.2822G>A (p.Arg941His)

      ClinVar: 636633, https://www.ncbi.nlm.nih.gov/clinvar/variation/636633/

      gnomAD: 0.00001590, https://gnomad.broadinstitute.org/variant/14-23893216-C-T?dataset=gnomad_r2_1

      Individual CaseInfo DiseaseEntity:NoDiseaseAssertion Mutation:Germline ClinVarID:636633 PreviousTesting:Additional InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:9069 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6518201/