Supplementary Data: Table S3

Case 87:

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:c.332C>T

CAID: CA389053057, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389053057

gnomAD: n/a

MultipleGeneVariants:

(1) DMD Variant:

Variant: NM_004011.3:c.3062C>A

CAID: CA10378350, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA10378350

gnomAD: 0.0001133, https://gnomad.broadinstitute.org/variant/X-31893318-G-T