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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) | Pathogenic | Marfan syndrome | 2024-08-22 | 1.0 | - | FBN1 |
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