Case#: 16, female, diagnosed as fetus,

DiseaseAssertion: LVNC

FamilyInfo: yes

CasePresentingHPOs: cyanosis, Ebstein anomaly of the tricuspid valve, Ventricular septal defect, coarctation of aorta, congestive heart failure (HP:0000961, HP:0010316, HP:0001629, HP:0001680, HP:0001635)

CaseHPOFreeText: -5.47 Fathmm, 0 sift, 0.001 polyphen2, 0 GVGD, mutation taster 1, -3.64 provean, -5.15 CADD,

CaseNotHPOs: N/A

CaseNotHPOFreeText: no extracardiac abnormalities

CasePreviousTesting: N/A

CaseGenotypingMethod: physical examination, ECG, variant screening and classification, genic collapsing test, group statistical analysis

Variant: absent

ClinVar: absent

CAID: CA389051391 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389051391

gnomAD: absent

Case#: 18, female, diagnosed at 4 days,

DiseaseAssertion: LVNC

FamilyInfo: yes

CasePresentingHPOs: heart murmur, Ebstein anomaly of the tricuspid valve, Ventricular septal defect, coarctation of aorta, Congestive heart failure (HP:0030148, HP:0010316, HP:0001629, HP:0001680, HP:0001635)

CaseHPOFreeText: -5.47 Fathmm, 0 sift, 0.001 polyphen2, 0 GVGD, mutation taster 1, -3.64 provean, -5.15 CADD,

CaseNotHPOs: N/A

CaseNotHPOFreeText: no extracardiac abnormalities

CasePreviousTesting: N/A

CaseGenotypingMethod: physical examination, ECG, variant screening and classification, genic collapsing test, group statistical analysis

Variant: NM_000257.3:c.1085T>G

ClinVar: absent

CAID: CA389051391 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389051391

gnomAD: absent

Case1: 3 year old female

DiseaseAssertion: LVNC

FamilyInfo: sister and brother diagnosed with Ebstein's anomaly, LVNC, and VSD, and same novel mutation was identified in sister, brother, and father

CasePresentingHPOs: HP:0031664, HP:0010316, HP:0001631, HP:0002789, HP:0001649, HP:0001680

"Systolic heart murmur, Ebstein anomaly of the tricuspid valve, Atrial septal defect, Tachypnea, Tachycardia, Coarctation of aorta

CaseHPOFreeText: precordial systolic murmur at 4 days old, moderate tricuspid valve insufficiency, right heart enlargment, membranous VSD, feeding poorly at 11 days

CasePreviousTesting: No mutations were identified in the TAZ, LMNA/C, MYBPC3, TNNT2, TNNI3, ACTC, and TPM1 genes

GenotypingMethod: Sequence analysis of MYH7

Variant: NM_000257.4:c.1085T>G

ClinVar: not found

CAID: CA389051391

gnomAD: not found