Variant · Snv
CEP290 NM_025114.4(CEP290):c.442-19T>A
CI-VAR-00019074Explore in graph →NM_025114.4:c.442-19T>AClinVar 126259 rs113132803
Curated evidence
Evidence by cancer (0 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.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 126259 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome; Thymoma; Cholangiocarcinoma; Acute myeloid leukemia; Hepatocellular carcinoma; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Lung cancer; Gastric cancer; Cervical cancer | germline | 10 | Feb 04, 2026 | clinvar |