Variant Summary
- HGVS
- NC_000003.11:g.10188328C>T,ENST00000256474.2:c.463+8C>T,NM_000551.3:c.463+8C>T
- Variant Type(s)
- splicing_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = Splice Region (c.463+8C>T).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Adrenal Gland Pheochromocytoma | 2 |