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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) | Uncertain Significance | Marfan syndrome | 2022-12-01 | 1.0 | ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | FBN1 |
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