VHL Exon 1-3 Deletion and Splice Region (c.340+5G>C)

CI-VAR-00000986Explore in graph →CIViC 4169

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.

civicCuratedShowing 1–2 of 2 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 Disease2unmapped disease
VHL Exon 1-3 Deletion and Splice Region (c.340+5G>C)	(predisposing)	Predisposing	C	Supports Predisposition	1	submitted	EID10644 This study screened for VHL and RET mutations in a group of patients taken from the European-American Pheochromocytoma-Paraganglioma and German von Hippel-Lindau Disease Registries. The patients were … (full text at CIViC) PMID 19906784 · Erlic et al., 2010 · Open in CIViC	civic
VHL Exon 1-3 Deletion and Splice Region (c.340+5G>C)	(predisposing)	Predisposing	C	Supports Predisposition	1	rejected	EID10645 This study screened for VHL and RET mutations in a group of patients taken from the European-American Pheochromocytoma-Paraganglioma and German von Hippel-Lindau Disease Registries. The patients were … (full text at CIViC) PMID 19906784 · Erlic et al., 2010 · 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

No ClinVar interpretation attached to this variant.