27
Case#: 27
DiseaseAssertion: LVNC
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: 1.96 Fathmm, 0 sift, 0.997 polyphen2, C65 GVGD, mutation taster 1, -4.85 provean, -5.29 CADD
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
CaseGenotypingMethod: physical examination, ECG, variant screening and classification, genic collapsing test, group statistical analysis
Variant: NM_000257.3:c.2078T>G
ClinVar: absent
CAID: CA389049168
gnomAD: absent