28
Case#: 28
DiseaseAssertion: LVNC
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: 7 sift, 0.969 polyphen, C65 GVGD, mutation taster 1, -4.06 provean, -6.25 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.1859T>C
ClinVar: absent
CAID: CA389049669
gnomAD: absent