Supplementary Data Table S3

Case: 374

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_000257.3:c.3250G>C (p.Asp1084His)

CAID: CA389044579 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389044579

gnomAD: Not in gnomAD

MultipleGeneVariants:

(1) ABCC9 Variant

Variant: NM_000256.3(MYBPC3):c.440C>T (p.Pro147Leu)

CAID: CA6481647 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6481647

gnomAD: Not in gnomAD