The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA177671 40513
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) | Pathogenic | Noonan syndrome | 2024-08-23 | 1.1 | - | PTPN11 |
| View | NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) | Pathogenic | Noonan syndrome | 2019-06-28 | 1.0 | - | PTPN11 |
Showing 1 to 2 of 2 rows