Table III

Case 94: Italian, 30yo,

DiseaseAssertion: HCM

CasePresentingHPOs: HP:0001712 (left ventricular hypertrophy)

CaseHPOFreeText: LVWT = 24mm, LV ejection fraction = 65%

CasePreviousTesting: echocardiography, Full testing (MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1), additional testing Sanger: (GLA, LAMP2, PRKAG2), additional testing NGS: (TNNC1, MYH6, MYOM1, MYOZ2, ANKRD1, VCL, CALR3, CAV3)

CaseGenotypingMethod: Genomic DNA extracted from peripheral leukocytes, Sanger sequencing (73 samples), Next-gen sequencing (19 samples)

Variant: NM_000257.3:c.161G>T

CAID: CA028998, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA028998

gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/14-23902781-C-A

MultipleGeneVariants:

(1) MYBPC3 Variant:

Variant: NM_000256.3(MYBPC3):c.1174delG (p.Ala392Leufs)

ClinVar: 568945, https://www.ncbi.nlm.nih.gov/clinvar/variation/568945/

gnomAD: n/a

(2) TNNT2 Variant:

Variant: NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys)

ClinVar: 12411, https://www.ncbi.nlm.nih.gov/clinvar/variation/12411/

gnomAD: 0.0003556, https://gnomad.broadinstitute.org/variant/1-201328373-G-A

(3) MYOM1 Variant:

Variant: NM_003803.3(MYOM1):c.2087G>A (p.Arg696His)

ClinVar: 525100, https://www.ncbi.nlm.nih.gov/clinvar/variation/525100/

gnomAD: 0.0002032, https://gnomad.broadinstitute.org/variant/18-3135667-C-T