Supplementary Data Table S3

Case: 49

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.4353+3G>T

CAID: CA041823, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA041823

gnomAD: 0.0002122, https://gnomad.broadinstitute.org/variant/14-23886709-C-A

MultipleGeneVariants:

(1) DMD Variant

Variant: NM_004006.2(DMD):c.2391T>G (p.Asn797Lys)

ClinVar: 94510, https://www.ncbi.nlm.nih.gov/clinvar/variation/94510/

gnomAD: 0.006548, https://gnomad.broadinstitute.org/variant/X-32509625-A-C

(2) JUP Variant

Variant: NM_002230.4(JUP):c.1942G>A (p.Val648Ile)

ClinVar: 45842, https://www.ncbi.nlm.nih.gov/clinvar/variation/45842/

gnomAD: 0.007385, https://gnomad.broadinstitute.org/variant/17-39913771-C-T