Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) | Pathogenic | RASopathy | 2025-03-25 | 2.0 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.3.0 | RAF1 |
View | NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) | Pathogenic | Noonan syndrome | 2018-12-10 | 1.0 | - | RAF1 |
Showing 1 to 2 of 2 rows