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: CA256478 12587
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004985.5(KRAS):c.458A>T (p.Asp153Val) | Pathogenic | RASopathy | 2025-03-31 | 2.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.3.0 | KRAS |
| View | NM_004985.4(KRAS):c.458A>T (p.Asp153Val) | Pathogenic | Noonan syndrome | 2018-12-10 | 1.0 | - | KRAS |
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