Variant Summary
- HGVS
- ENST00000256474.2:c.1-?_340+?del
- Variant Type(s)
- exon_loss_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 3
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Exon 1 Deletion.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |