VHL c.*294G>A

CI-VAR-00004880Explore in graph →ClinVar 342407 CIViC 3022 rs1642742

Curated evidence

Evidence by cancer (9 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.

civicCuratedShowing 1–9 of 9 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease9unmapped disease
VHL c.*294G>A	(predisposing)	Predisposing	C	N/A N/A	3	rejected	EID8165 8 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs1642742 in VHL. This cohort included a female with stage III ccRCC at age 66 (… (full text at CIViC) PMID 25217002 · Wang et al., 2014 · Open in CIViC	civic
VHL c.*294G>A	(predisposing)	Predisposing	C	N/A N/A	3	rejected	EID8166 8 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs1642742 in VHL. This cohort includes a female of age 77 with stage I ccRCC (2)… (full text at CIViC) PMID 25217002 · Wang et al., 2014 · Open in CIViC	civic

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
342407	Benign	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome	germline	3	Jun 22, 2018	clinvar