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    Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy
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    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.715_717del

      CAID: CA913184869, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184869

      gnomAD: n/a

      Individual CaseInfo LVNC AutosomalDominant FullPreviousTesting AdditionalPreviousTesting CA913184869 SupplementalData inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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