Variant Summary
- Also known as
- C.464-1G>T,RS5030817,IVS2-1G>T
- HGVS
- NC_000003.11:g.10191470G>T,NM_000551.3:c.464-1G>T,ENST00000256474.2:c.464-1G>T,NC_000003.12:g.10149786G>T,NP_000542.1:p.?
- Variant Type(s)
- splice_acceptor_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Splice Site (c.464-1G>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |