Variant Summary
- Also known as
- C.464-2A>T,RS5030816
- HGVS
- NM_000551.3:c.464-2A>T,NC_000003.11:g.10191469A>T,ENST00000256474.2:c.464-2A>T,NP_000542.1:p.=
- Variant Type(s)
- splice_acceptor_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Splice Site (c.464-2A>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |