Variant Summary
- Also known as
- C.341-2A>C
- HGVS
- NC_000003.11:g.10188196A>C,NM_000551.3:c.341-2A>C,ENST00000256474.2:c.341-2A>C
- 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.341-2A>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Renal Cell Carcinoma | 2 |