Schwannomatosis — Variants & evidence

Schwannomatosis — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

2 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.

civicCuratedShowing 1–2 of 2 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
LZTR1 LOSS-OF-FUNCTION1
(predisposing)	Predisposing	B	Supports Pathogenic	5	submitted	EID7058 Germline loss-of-function mutations in LZTR1 is a SMARCB1-independent predisposing factor that leads to Schwannomatosis, a late-onset tumor predisposition disorder. PMID 24362817 · Piotrowski et al., 2014 · Open in CIViC	civic
HTRA1 Fusion1
(diagnostic)	Diagnostic	C	Supports Positive	2	submitted	EID10311 SH3PXD2A-HTRA1 gene fusion was found in Schwannomatosis(SWNTS)-schwannomas (SWNs) PMID 33112994 · Mansouri et al., 2021 · Open in CIViC	civic

Data updated 1 hour agoSource updated unknownsource: civic (CC0)

Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.