Variant Summary
- HGVS
- NP_000542.1:p.Ser68Trp,NC_000003.11:g.10183734C>G,NC_000003.12:g.10142050C>G,NM_000551.3:c.203C>G
- 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 = S68W (c.203C>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |