VHL L85_E94del (c.254_283del30bp)

CI-VAR-00002438Explore in graph →CIViC 2506

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 L85_E94del (c.254_283del30bp)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6767 A 14Y female patient presented with bilateral retina hemangioblastoma and single vertebral hemangioblastoma and was confirmed to have a germline deletion (c.254_283del30; p,Leu85_Glu94del) in the VHL … (full text at CIViC) PMID 28849724 · Glushkova et al., 2018 · Open in CIViC	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.