Supplementary Data Table S3

Case: 201

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

Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

Variant2: NM_000257.4(MYH7):c.3853+7C>T

ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

MultipleGeneVariants:

(1) ABCC9 Variant

Variant: NM_005691.3:c.1306G>A (p.Ala436Thr)

CAID: CA6481694 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6481694

gnomAD: 0.0001608, https://gnomad.broadinstitute.org/variant/12-22063105-C-T

(2) DSP Variant

Variant: NM_004415.2:c.4558A>G (p.Ser1520Gly)

CAID: CA041928 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA041928

gnomAD: 0.00009241, https://gnomad.broadinstitute.org/variant/6-7580981-A-G

(3) MYBPC3 Variant

Variant: NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)

ClinVar: 42813 https://www.ncbi.nlm.nih.gov/clinvar/variation/42813/

gnomAD: 0.01364, https://gnomad.broadinstitute.org/variant/11-47367871-C-T