Variant · Indel
VHL D197Rfs* (c.588_588dupA)
CI-VAR-00000449Explore in graph →CIViC 2479
Curated evidence
Evidence by cancer (3 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
- 28432847
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease3unmapped disease | ||||||||
| VHL D197Rfs* (c.588_588dupA) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6690121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofib… (full text at CIViC) PMID 28432847 · Khadilkar et al., 2017 · Open in CIViC | civic |
| VHL D197Rfs* (c.588_588dupA) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6785Medical records of 31 genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. A 20 year old Asian Indian female presented with bilateral pheochromocytoma and pancreatic cysts… (full text at CIViC) PMID 29124493 · Lomte et al., 2018 · 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