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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) | Pathogenic | RASopathy | 2025-03-31 | 2.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K2 Version 2.3.0 | MAP2K2 |
| View | NM_030662.3(MAP2K2):c.170T>G (p.Phe57Cys) | Pathogenic | cardiofaciocutaneous syndrome | 2018-12-10 | 1.0 | - | MAP2K2 |
Showing 1 to 2 of 2 rows