Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) | Likely Pathogenic | Marfan syndrome | 2024-02-22 | 1.0 | - | FBN1 |
Showing 1 to 1 of 1 rows