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: CA16602456 375981
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.370C>T (p.Pro124Ser) | Pathogenic | RASopathy | 2025-09-26 | 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.370C>T (p.Pro124Ser) | Pathogenic | RASopathy | 2020-07-02 | 1.0 | - | MAP2K1 |
Showing 1 to 2 of 2 rows