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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) | Pathogenic | Noonan syndrome | 2018-12-10 | 1.0 | - | PTPN11 |
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