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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, familial2022-07-12
1.1
ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.1LDLR
View NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
Likely Pathogenic
hypercholesterolemia, familial2022-04-05
1.0
-LDLR
Showing 1 to 2 of 2 rows