Variant Summary
- Also known as
- C.464-2A>G,RS5030816
- HGVS
- NM_000551.3:c.464-2A>G,NC_000003.11:g.10191469A>G,ENST00000256474.2:c.464-2A>G
- Variant Type(s)
- splice_acceptor_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Splice Site (c.464-2A>G).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 | |
| C | Predisposing | Von Hippel-Lindau Disease | 2 | |||
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 2 |