2 Matching Annotations
  1. Last 7 days
  2. link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
    Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients
    2
    1. ClingenBaseline 21 Oct 2026
      MYH7 (3)

      Case#: SF No. 28, GC Case No. 21, male, 83

      DiseaseAssertion: hypertrophic cardiomyopathy, dilated cardiomyopathy

      FamilyInfo: No

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Gastric cancer,

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: WES, Sanger sequencing,

      Variant: NM_000257.3(MYH7):c.4522_4524delGAG (p.Glu1508del)

      ClinVar: 43023 https://www.ncbi.nlm.nih.gov/clinvar/variation/43023/

      CAID: N/A

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:HCM DiseaseEntity:DCM inheritancePattern:NoInheritanceAssertion Mutation:Germline SupplementalData ClinVarID: 43023 PreviousTesting:Partial inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    2. ClingenBaseline 21 Oct 2026
      MYH7 (3)

      Case#: SF No. 30, GC Case No. 23, female, 31

      DiseaseAssertion: hypertrophic cardiomyopathy, dilated cardiomyopathy

      FamilyInfo: Yes, one affected

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Gastric cancer,

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: WES, Sanger sequencing,

      Variant: NM_000257.3(MYH7):c.4522_4524delGAG (p.Glu1508del)

      ClinVar: 43023 https://www.ncbi.nlm.nih.gov/clinvar/variation/43023/

      CAID: N/A

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:DCM DiseaseEntity:HCM inheritancePattern:NoInheritanceAssertion Mutation:Germline SupplementalData ClinVarID: 43023 FamilyInfo PreviousTesting:Partial inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link-springer-com.libproxy.lib.unc.edu/article/10.1007/s00439-020-02207-6