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: CA118524 6821
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) | Pathogenic | Noonan syndrome-like disorder with loose anagen hair 1 | 2018-12-10 | 1.0 | - | SHOC2 |
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