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: CA235336 40614
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) | Uncertain Significance | RASopathy | 2024-10-01 | 3.1 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.1.0 | RAF1 |
| View | NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) | Uncertain Significance | RASopathy | 2024-09-26 | 3.0 | - | RAF1 |
| View | NM_002880.3(RAF1):c.1193G>T (p.Arg398Leu) | Uncertain Significance | RASopathy | 2019-12-05 | 2.0 | - | RAF1 |
| View | NM_002880.3(RAF1):c.1193G>T (p.Arg398Leu) | Pathogenic | RASopathy | 2019-12-05 | 1.0 | - | RAF1 |
Showing 1 to 4 of 4 rows