Supplementary Data Table S3

Case: 194

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.2770G>A (p.Glu924Lys)

ClinVar: 14092 https://www.ncbi.nlm.nih.gov/clinvar/variation/14092/

gnomAD: Not in gnomAD

MultipleGeneVariants:

(1) DES Variant

Variant: NM_001927.4(DES):c.137C>T (p.Ser46Phe)

ClinVar: 66406 https://www.ncbi.nlm.nih.gov/clinvar/variation/66406/

gnomAD: Not in gnomAD

(2) MYH6 Variant

Variant: NM_002471.3:c.5209A>T (p.Thr1737Ser)

CAID: CA257777730 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA257777730

gnomAD: Not in gnomAD

(3) TNNT2 Variant

Variant: NM_000364.3:c.416G>A (p.Arg139Lys)

CAID: CA028406 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA028406

gnomAD: Not in gnomAD