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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp) | Uncertain Significance | hypercholesterolemia, familial | 2023-05-01 | 1.0 | ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2 | LDLR |
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