Variant Summary
- Also known as
- C.375_376INSC,ASP126FS
- HGVS
- ENST00000256474.2:c.375_376insC
- Variant Type(s)
- inframe_insertion
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = D126FS (c.375_376insC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |