Variant · Splice
VHL A50= (c.150C>G) and Splice Site (c.463-1G>T)
CI-VAR-00000107Explore in graph →CIViC 2442
Curated evidence
Evidence by cancer (1 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 11835384
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL A50= (c.150C>G) and Splice Site (c.463-1G>T) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6531Tumor registries from four pediatric referral centers (Lucile Salter Packard Children’s Hospital, Childrens Hospital of Los Angeles, the Johns Hopkins Hospital, and Childrens Hospital of Buffalo) were… (full text at CIViC) PMID 11835384 · Fisher et al., 2002 · Open in CIViC | civic |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available