Variant Summary
- Also known as
- RS5030821,C.500G>T,ARG167LEU
- HGVS
- NC_000003.11:g.10191507G>T,NM_000551.3:c.500G>T,NP_000542.1:p.Arg167Leu,ENST00000256474.2:c.500G>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R167L (c.500G>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 1 |