Showing 1 to 2 of 2 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000527.5(LDLR):c.2389+5G>A
Uncertain Significance
hypercholesterolemia, familial2023-03-31
1.1
ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2LDLR
View NM_000527.5(LDLR):c.2389+5G>A
Uncertain Significance
hypercholesterolemia, familial2023-03-31
1.0
-LDLR
Showing 1 to 2 of 2 rows