Supplementary Data: Table 2

Case 1:

DiseaseAssertion: Dilated Cardiomyopathy

CasePresentingHPOs: HP:0001644 (dilated cardiomyopathy)

CasePreviousTesting: 12-lead electrocardiogram (ECG), echocardiography, exercise test and 24-hour (or 48-hour) Holter monitoring, cardiac MRI, full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplemental table 2

CaseGenotypingMethod: WES, Cytoscan HD SNP array (performed on proband, 3 additional carriers, and parents)

Variant 1 - maternal: NM_000257.2(MYH7):c.5754C>R (p.Asn1918Lys)

ClinVar: 66082, https://www.ncbi.nlm.nih.gov/clinvar/variation/66082/

gnomAD: n/a

Variant 2 - paternal: NM_000257.3:c.328G>A

CAID: CA036654, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA036654

gnomAD: 0.00001591, https://gnomad.broadinstitute.org/variant/14-23902310-C-T

MultipleGeneVariants:

(1) FHL1 Variant:

Variant (maternal): NM_001159702.2:c.968C>T

CAID: CA10525127, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA10525127

gnomAD: 0.000005449, https://gnomad.broadinstitute.org/variant/X-135292109-C-T

(2) SYNE1 Variant:

Variant (maternal): NM_033071.3(SYNE1):c.18514G>A (p.Glu6172Lys)

ClinVar: 199251, https://www.ncbi.nlm.nih.gov/clinvar/variation/199251/

gnomAD: 0.00003536, https://gnomad.broadinstitute.org/variant/6-152589279-C-T