The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA273414 13975
VCEP: RASopathy VCEP
Showing 1 to 6 of 6 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) | Pathogenic | RASopathy | 2020-04-09 | 1.5 | - | BRAF |
| View | NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) | Pathogenic | RASopathy | 2020-04-09 | 1.4 | - | BRAF |
| View | NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) | Pathogenic | RASopathy | 2020-04-01 | 1.3 | - | BRAF |
| View | NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) | Pathogenic | RASopathy | 2020-04-01 | 1.2 | - | BRAF |
| View | NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) | Pathogenic | RASopathy | 2020-04-01 | 1.1 | - | BRAF |
| View | NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) | Pathogenic | RASopathy | 2020-02-27 | 1.0 | - | BRAF |
Showing 1 to 6 of 6 rows