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    Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy | Circulation: Cardiovascular Imaging
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    1. ClingenBaseline 21 Oct 2026

      CaseMYH7-26: N/A

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CaseGenotypingMethod: Testing for all 8 sarcomeric genes, plus GLA, LAMP2, and PRKAG2 was initiated in all probands. After the direct sequencing, the variants were filtered for pathogenicity and classified.

      Variant: NM_000257.3:c.2609G>A (p.Arg870His)

      ClinVar: 14120 https://www.ncbi.nlm.nih.gov/clinvar/variation/14120/

      gnomAD: European (Non-Finnish) 1.549e-5, Overall 7.072e-6 https://gnomad.broadinstitute.org/variant/14-23894048-C-T

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting AutosomalDominant HCM SupplementalData ClinVarID:14120 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCIMAGING.116.005311