Variant Summary
- Also known as
- P81DELRVV (C.243_251DELGCGCGTCGT),ARG82_VAL84DEL
- HGVS
- NC_000003.11:g.10183774_10183782del,NC_000003.12:g.10142092_10142100del,NM_000551.4:c.245_253del,NP_000542.1:p.Arg82_Val84del
- Variant Type(s)
- inframe_deletion
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R82_V84del (c.243_251del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |