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Variants & evidence
2 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| NF2 c.1396C>T2 | ||||||||
| (diagnostic) | Adult Spinal Cord Ependymoma | Diagnostic | B | Supports Positive | 3 | submitted | EID8066Single strand conformation polymorphism and sequencing was used on human tumors to determine tumor NF2 genotype. This is a nonsense mutation. PMID 10433955 · Ebert et al., 1999 · Open in CIViC | civic |
| (predisposing) | Adult Spinal Cord Ependymoma | Predisposing | C | Supports Predisposition | 2 | accepted | EID8067Blood or tumor specimens of 37 unrelated adult patients with ependymomas related to neurofibromatosis Type 2 (NF2) underwent sequencing of the NF2 gene to reveal germline variants. Overall, 64% were f… (full text at CIViC) PMID 21294614 · Plotkin et al., 2011 · Open in CIViC | civic |
Data updated 10 hours 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.