Supplementary Data: Table S3

Case 1:

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.3286G>T (p.Asp1096Tyr)

ClinVar: 42963, https://www.ncbi.nlm.nih.gov/clinvar/variation/42953/

gnomAD: 0.0001414, https://gnomad.broadinstitute.org/variant/14-23890217-C-A

MultipleGeneVariants:

(1) ACTN2 Variant:

Variant: NM_001103.3(ACTN2):c.893G>A (p.Arg298His)

ClinVar: 43951, https://www.ncbi.nlm.nih.gov/clinvar/variation/43951/

gnomAD: 0.0004457, https://gnomad.broadinstitute.org/variant/1-236902618-G-A

Supplementary Data: Table S3

Case 140:

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.3286G>T (p.Asp1096Tyr)

ClinVar: 42953, https://www.ncbi.nlm.nih.gov/clinvar/variation/42953/

gnomAD: 0.0001414, https://gnomad.broadinstitute.org/variant/14-23890217-C-A

MultipleGeneVariants:

(1) SDHA Variant:

Variant: NM_004168.3(SDHA):c.830C>T (p.Thr277Met)

ClinVar: 222817, https://www.ncbi.nlm.nih.gov/clinvar/variation/222817/

gnomAD: 0.00008359, https://gnomad.broadinstitute.org/variant/5-231050-C-T

(2) TTN Variant:

Variant: p.32991_32992del no ClinVar or CAID

CaseST4-89: Sweden

DiseaseAssertion: Idiopathic Dilated Cardiomyopathy

FamilyInfo: N/A

CasePresentingHPOs: HP:0001644 (Dilated cardiomyopathy)

HPOsFreeText: N/A

CaseNotHPOs: HP:0002140, HP:0000822, HP:0001654, HP:0030955, HP:0000819, HP:0002666, HP:0000845, HP:0000820 (Ischemic stroke, Hypertension, Valvular heart disease, Alcoholism, Diabetes mellitus, Pheochromocytoma, Acromegaly, Thyroid disease)

NotHPOsFreeText: Patients were excluded for significant systemic infection, systemic diseases, previous cancer treatment including irradiation, and tachycardia-induced cardiomyopathy or other primary cardiomyopathy.

CaseAddInfo: N/A

CasePreviousTesting: See Supplemental Table 1

CaseGenotypingMethod: Genomic DNA was extracted from the patients. 41 exons of previously-reported genes that were reported in DCM patients were amplified and directly sequenced. Afterwards, the variants were aligned and sorted for pathogenicity.

Variant: NM_000257.3:c.3286G>T (p.Asp1096Tyr)

ClinVar: 42953 https://www.ncbi.nlm.nih.gov/clinvar/variation/42953/

gnomAD: European (Non-Finnish) 3.097e-4, Overall 1.414e-4 https://gnomad.broadinstitute.org/variant/14-23890217-C-A