Supplementary Data Table S3

Case: 62

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: 0.00006010, https://gnomad.broadinstitute.org/variant/14-23891476-C-T

MultipleGeneVariants:

(1) LMNA Variant

Variant: NM_001282625.1:c.1551G>T

CAID: CA342823303, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA342823303

gnomAD: 0.00001100, https://gnomad.broadinstitute.org/variant/1-156106966-G-T

(2) RBM20 Variant

Variant: NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)

ClinVar: 43995, https://www.ncbi.nlm.nih.gov/clinvar/variation/43995/

gnomAD: 0.004046, https://gnomad.broadinstitute.org/variant/10-112581039-G-A

Supplementary Data Table S3

Case: 373

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.4903A>G (p.Met1635Val)

CAID: CA044177 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA044177

gnomAD: 0.0005972, https://gnomad.broadinstitute.org/variant/14-23885263-T-C

MultipleGeneVariants:

(1) LMNA Variant

Variant: NM_170707.4(LMNA):c.357C>T (p.Arg119=)

ClinVar: 48062 https://www.ncbi.nlm.nih.gov/clinvar/variation/48062/

gnomAD: 0.01294, https://gnomad.broadinstitute.org/variant/1-156100408-C-T

(2) MYBPC3 Variant

Variant: NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)

ClinVar: 42690 https://www.ncbi.nlm.nih.gov/clinvar/variation/42690/

gnomAD: 0.0001913, https://gnomad.broadinstitute.org/variant/11-47355117-G-A

(3) SCN5A Variant

Variant: NM_000335.4(SCN5A):c.553G>A (p.Ala185Thr)

ClinVar: 67996 https://www.ncbi.nlm.nih.gov/clinvar/variation/67996/

gnomAD: 0.004251, https://gnomad.broadinstitute.org/variant/3-38662392-C-T

(4) VCL Variant

Variant: NM_014000.2(VCL):c.1535G>A (p.Arg512His)

ClinVar: 450167 https://www.ncbi.nlm.nih.gov/clinvar/variation/450167/

gnomAD: 0.0001973, https://gnomad.broadinstitute.org/variant/10-75854211-G-A