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: CA220140 40562
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) | Pathogenic | Noonan syndrome | 2019-06-28 | 1.0 | - | PTPN11 |
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