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  1. Last 7 days
    1. A 65‐year‐old woman

      Case#: female; age 65

      DiseaseAssertion: chemotherapy-induced cardiomyopathy with severe left ventricular systolic dysfunction

      FamilyInfo: NR

      ParentalTesting: NR

      CasePresentingHPOs: HP:0001644 HP:0001635 HP:0001640

      CaseHPOFreeText: Dilated left ventricle; left ventricular dysfunction; cardiomegaly; bilateral pleural effusion; dyspnea

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: Previous anthracycline-associated cardiomyopathy 7 years earlier

      Genotyping Method: TruSight One Expanded 6700-gene sequencing panel on an Illumina NextSeq 550

      FunctionalAnalysis: NR

      Variant: c.452G>A (p.Arg151Gln; rs730881101); missense variant; heterozygous

      ClinVar: 181617

      CAID: NR

      gnomAD: NR