Variant Summary
- Also known as
- C.288DELGCC,C.288_290DELGCC
- HGVS
- NC_000003.12:g.10142135_10142137del,NC_000003.11:g.10183819_10183821del,NM_000551.3:c.288_290del,NP_000542.1:p.Gln96_Pro97delinsHis
- Variant Type(s)
- disruptive_inframe_deletion
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Q96_P97delinsH (c.288_290del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |