Variant Summary
- Also known as
- C.340+5G>C,C.533+5G>C,IVS1+5G>C
- HGVS
- NM_000551.3:c.340+5G>C,NC_000003.11:g.10183876G>C,ENST00000256474.2:c.340+5G>C,NP_000542.1:p.?,NC_000003.12:g.10142192G>C
- Variant Type(s)
- intron_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Splice Region (c.340+5G>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |