Variant Summary
- Also known as
- C.279DELC,GLY93FS,GLU94FS
- HGVS
- ENST00000256474.2:c.279delC,NC_000003.11:g.10183810del,NM_000551.3:c.279del,NP_000542.1:p.Glu94SerfsTer?
- Variant Type(s)
- frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = E94FS (c.279delC).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 2 |