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: CA134595 40779
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) | Pathogenic | RASopathy | 2025-03-27 | 2.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.3.0 | MAP2K1 |
| View | NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) | Pathogenic | RASopathy | 2020-06-25 | 1.0 | - | MAP2K1 |
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