Showing 1 to 5 of 5 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
Pathogenic
hypercholesterolemia, familial2024-12-02
1.4
-LDLR
View NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
Pathogenic
hypercholesterolemia, familial2024-10-11
1.3
-LDLR
View NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
Pathogenic
hypercholesterolemia, familial2022-04-22
1.2
-LDLR
View NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
Pathogenic
hypercholesterolemia, familial2022-04-22
1.1
-LDLR
View NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
Pathogenic
hypercholesterolemia, familial2022-04-22
1.0
-LDLR
Showing 1 to 5 of 5 rows