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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000527.5(LDLR):c.265T>C (p.Cys89Arg) | Likely Pathogenic | hypercholesterolemia, familial | 2022-07-12 | 1.1 | ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.1 | LDLR |
View | NM_000527.5(LDLR):c.265T>C (p.Cys89Arg) | Likely Pathogenic | hypercholesterolemia, familial | 2022-04-05 | 1.0 | - | LDLR |
Showing 1 to 2 of 2 rows