Supplementary Data: Table S3

Case 56:

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.4717G>A (p.Glu1573Lys)

ClinVar: 222729, https://www.ncbi.nlm.nih.gov/clinvar/variation/222729/

gnomAD: 0.00005967, https://gnomad.broadinstitute.org/variant/14-23885449-C-T

MultipleGeneVariants:

(1) TMPO Variant:

Variant: NM_003276.2(TMPO):c.821G>A (p.Arg274Lys)

ClinVar: 44673, https://www.ncbi.nlm.nih.gov/clinvar/variation/44673/

gnomAD: 0.002714, https://gnomad.broadinstitute.org/variant/12-98926856-G-A