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    Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction | Circulation: Cardiovascular Genetics
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    1. ClingenBaseline 21 Oct 2026

      Supplementary Data: Table S3

      Case 12:

      DiseaseAssertion: left ventricular noncompaction

      CasePresentingHPOs: HP:0030682 (left ventricular noncompaction)

      CaseHPOFreeText: >7yo, able to hold breath, non compacted segment = distinct 2-layered appearance of trabeculated and compacted myocardium, NC/C ratio > 2.3:1

      CasePreviousTesting: Cardiac MRI using 17-segment model of LV segmentation, ECG, transthoracic echocardiography, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplementary data tables S1 and S2.

      CaseGenotypingMethod: WES, variant enrichment analysis

      Variant: NM_000257.3(MYH7):c.5786C>T (p.Thr1929Met)

      ClinVar: 181397, https://www.ncbi.nlm.nih.gov/clinvar/variation/181397/

      gnomAD: 0.00005308, https://gnomad.broadinstitute.org/variant/14-23882972-G-A

      Individual CaseInfo LVNC FullPreviousTesting AdditionalPreviousTesting ClinVarID:181397 NoInheritanceAssertion SupplementalData inferred_gene_hgnc:469 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.117.001763