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: CA180753 177778
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) | Pathogenic | RASopathy | 2025-03-26 | 1.1 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.3.0 | NRAS |
| View | NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) | Pathogenic | RASopathy | 2024-10-30 | 1.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.1.0 | NRAS |
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