Supplementary Data: S2 Table

Case 236: Spanish, 37yo, 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.4954G>T (p.Asp1652Tyr)

ClinVar: 43047, https://www.ncbi.nlm.nih.gov/clinvar/variation/43047/

gnomAD: 0.00004774, https://gnomad.broadinstitute.org/variant/14-23885041-C-A

Variant2: NM_000257.3(MYH7):c.4817G>A (p.Arg1606His)

ClinVar: 43039, https://www.ncbi.nlm.nih.gov/clinvar/variation/43039/

gnomAD: 0.00003889, https://gnomad.broadinstitute.org/variant/14-23885349-C-T

Supplementary Data: S2 Table

Case 237: Spanish, 55yo, 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.4954G>T (p.Asp1652Tyr)

ClinVar: 43047, https://www.ncbi.nlm.nih.gov/clinvar/variation/43047/

gnomAD: 0.00004774, https://gnomad.broadinstitute.org/variant/14-23885041-C-A

MultipleGeneVariants:

(1) JPH2 Variant:

Variant: NM_020433.4:c.1009G>A

CAID: CA409093203, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA409093203

gnomAD: n/a