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    Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy
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    1. ClingenBaseline 23 Oct 2026

      Supplementary Data: Online Table 2a

      Case:

      CasePresentingHPOs: HP:0010316, HP:0001645 (Ebstein anomaly, sudden cardiac death)

      CasePreviousTesting: Full sarcomere testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), Additional testing (ABCC9, ACTN2, ANKRD1, BAG3, CALR3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, GLA, JPH2, JUP, LAMA4, LAMP2, LMNA, MYH6, MYPN, MYOZ1, MYOZ2, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TNNC1, TTN, VCL and LDB3)

      CaseGenotypingMethod: DNA isolated from peripheral blood, targeted enrichment, next-gen sequencing with panel of 46 genes

      Variant: NM_000257.3:c.5754C>G

      CAID: CA389034544, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389034544

      gnomAD: n/a

      Individual CaseInfo LVNC AutosomalDominant FullPreviousTesting AdditionalPreviousTesting CA389034544 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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