Variant Summary
- Also known as
- C.384DELT,LEU129FS
- HGVS
- ENST00000256474.2:c.384delT
- Variant Type(s)
- frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = L129fs (c.384delT).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |