Variant · Indel
VHL Q73FS (c.215delC)
CI-VAR-00003585Explore in graph →ENST00000256474.2:c.215delCCIViC 2002
Curated evidence
Evidence by cancer (2 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
- 10761708
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL Q73FS (c.215delC) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID5385A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC | civic |
| VHL Q73FS (c.215delC) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5860A case report of a 22-year-old male with VHL is described. The patient had the following manifestations: retinal hemangioblastoma, cerebellar hemangioblastoma, renal cell carcinoma, renal cysts, and e… (full text at CIViC) PMID 10408561 · Kawahara et al., 1999 · Open in 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