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, familial | 2022-06-21 | 2.0 | - | LDLR |
View | NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) | Likely Pathogenic | hypercholesterolemia, familial | 2022-06-21 | 1.1 | - | LDLR |
View | NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) | Likely Pathogenic | hypercholesterolemia, familial | 2022-04-30 | 1.0 | - | LDLR |
Showing 1 to 3 of 3 rows