VHL G93fs (c.278delG)

CI-VAR-00001855Explore in graph →ENST00000256474.2:c.277delGClinVar 428811 CIViC 1812 rs1131690964

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.

civicCuratedShowing 1–1 of 1 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 Disease1unmapped disease
VHL G93fs (c.278delG)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID4989 Tissue analysis from 61 VHL patients revealed 22 variants within VHL gene open reading frame. All mutations cluster to the 3’ end of the VHL gene open reading frame, implicating this region as importa… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · 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
428811	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome	germline	2	Oct 14, 2022	clinvar