Supplementary Data Table S3

Case: 73

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.3825C>A (p.Ser1275Arg)

CAID: CA389041965 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389041965

gnomAD: Not in gnomAD

MultipleGeneVariants:

(1) NEBL Variant

Variant: NM_006393.2(NEBL):c.109_110del (p.Leu37fs)

ClinVar: 229042 https://www.ncbi.nlm.nih.gov/clinvar/variation/229042/

gnomAD: 0.001673, https://gnomad.broadinstitute.org/variant/10-21185929-TAA-T

(2) NEXN Variant

Variant: NM_144573.3:c.968A>G (p.Glu323Gly)

CAID: CA918784 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA918784

gnomAD: 0.001758, https://gnomad.broadinstitute.org/variant/1-78395104-A-G

(3) PLB1 Variant

Variant: NM_153021.4:c.3967C>A (p.Pro1323Thr)

CAID: CA1588921 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA1588921

gnomAD: 0.04150, https://gnomad.broadinstitute.org/variant/2-28854972-C-A