Variant Summary
- Also known as
- ARG200TRP,C.598C>T,RS28940298
- HGVS
- NM_000551.3:c.598C>T,NP_000542.1:p.Arg200Trp,ENST00000256474.2:c.598C>T,NC_000003.11:g.10191605C>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R200W (c.598C>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predictive | Supports | Sensitivity/Response | Chuvash Polycythemia | Ruxolitinib | 4 |