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: CA134601 44588
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.275T>G (p.Leu92Arg) | Pathogenic | RASopathy | 2024-10-01 | 3.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.1.0 | MAP2K1 |
| View | NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) | Pathogenic | RASopathy | 2024-09-27 | 2.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.1.0 | MAP2K1 |
| View | NM_002755.3(MAP2K1):c.275T>G (p.Leu92Arg) | Pathogenic | cardiofaciocutaneous syndrome | 2020-07-01 | 1.0 | - | MAP2K1 |
Showing 1 to 3 of 3 rows