Supplementary Data Table S3

Case: 118

DiseaseEntity: HCM

HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

InheritancePattern: n/a

CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

Variant: NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)

ClinVar: 155814 https://www.ncbi.nlm.nih.gov/clinvar/variation/155814/

gnomAD: 0.0006368, https://gnomad.broadinstitute.org/variant/14-23891476-C-T

MultipleGeneVariants:

(1) CSRP3 Variant

Variant: NM_003476.4:c.529G>A (p.Gly177Ser)

CAID: CA5916512 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA5916512

gnomAD: 0.00004619, https://gnomad.broadinstitute.org/variant/11-19204273-C-T