Supplementary Data: S2 Table

Case 73: Spanish, 15yo, Male

DiseaseAssertion: Hypertrophic Cardiomyopathy

CasePreviousTesting: Full Testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplementary data table S1

CaseGenotypingMethod: genomic DNA obtained from blood or saliva, Next-gen sequencing panels of 55 or 78 genes

Variant: NM_000257.3(MYH7):c.3613G>A (p.Glu1205Lys)

ClinVar: 179656, https://www.ncbi.nlm.nih.gov/clinvar/variation/179656/

gnomAD: 0.000004004, https://gnomad.broadinstitute.org/variant/14-23889167-C-T

MultipleGeneVariants:

(1) RYR2 Variant:

Variant: NM_001035.2(RYR2):c.5294C>G (p.Ser1765Cys)

ClinVar: 404210, https://www.ncbi.nlm.nih.gov/clinvar/variation/404210/

gnomAD: 0.0001676, https://gnomad.broadinstitute.org/variant/1-237777722-C-G

(2) TTN Variant:

Variant: NM_133378.4:c.77076A>C

CAID: CA1988738, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_133378.4%3Ac.77076A%3EC

gnomAD: 0.00004024, https://gnomad.broadinstitute.org/variant/2-179426079-T-G

Supplementary Data: S2 Table

Case 49: Spanish, 18yo, Male

DiseaseAssertion: Hypertrophic Cardiomyopathy

CasePreviousTesting: Full Testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), additional testing listed in supplementary data table S1

CaseGenotypingMethod: genomic DNA obtained from blood or saliva, Next-gen sequencing panels of 55 or 78 genes

Variant1: NM_000257.3(MYH7):c.2890G>C (p.Val964Leu)

ClinVar: 42938, https://www.ncbi.nlm.nih.gov/clinvar/variation/42938/

gnomAD: 0.0004383, https://gnomad.broadinstitute.org/variant/14-23893148-C-G

Variant2: NM_000257.3(MYH7):c.3613G>A (p.Glu1205Lys)

ClinVar: 179656, https://www.ncbi.nlm.nih.gov/clinvar/variation/179656/

gnomAD: 0.000004004, https://gnomad.broadinstitute.org/variant/14-23889167-C-T