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  2. www.sciencedirect.com www.sciencedirect.com
    Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy
    2
    1. ClingenBaseline 22 Oct 2026

      Supplementary Data: Online Table 2a

      Case:

      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.3113T>C

      CAID: CA257817954, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA257817954

      gnomAD: n/a

      Individual CaseInfo LVNC AutosomalDominant FullPreviousTesting AdditionalPreviousTesting CA257817954 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
    2. ClingenBaseline 22 Oct 2026

      Supplementary Data: Online Table 1a

      Case:

      CasePresentingHPOs: HP:0010316 (Ebstein anomaly)

      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.3113T>C

      CAID: CA257817954, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA257817954

      gnomAD: n/a

      Individual CaseInfo LVNC AutosomalDominant CA257817954 FullPreviousTesting AdditionalPreviousTesting SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S0735109717419358