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: CA183392 178963
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004333.6(BRAF):c.622A>G (p.Ile208Val) | Likely Benign | RASopathy | 2022-08-23 | 2.1 | - | BRAF |
| View | NM_004333.6(BRAF):c.622A>G (p.Ile208Val) | Likely Benign | RASopathy | 2022-08-11 | 2.0 | - | BRAF |
| View | NM_004333.6(BRAF):c.622A>G (p.Ile208Val) | Uncertain Significance | RASopathy | 2020-03-09 | 1.0 | - | BRAF |
Showing 1 to 3 of 3 rows