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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter)
Pathogenic
hypercholesterolemia, familial2022-08-28
1.0
ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.1LDLR
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