Showing 1 to 3 of 3 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
Pathogenic
hypercholesterolemia, familial2022-06-21
2.0
-LDLR
View NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
Likely Pathogenic
hypercholesterolemia, familial2022-06-21
1.1
-LDLR
View NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
Likely Pathogenic
hypercholesterolemia, familial2022-04-30
1.0
-LDLR
Showing 1 to 3 of 3 rows