Variant Summary
- Also known as
- GLY123FS,C.369_375DELGACACAC
- HGVS
- ENST00000256474.2:c.369_375delGACACAC
- 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 = G123fs (c.369_375delGACACAC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 1 |