Variant · Deletion
CEP290 NM_025114.4(CEP290):c.3574-9del
CI-VAR-00018264Explore in graph →NM_025114.4:c.3574-9delClinVar 96170 rs10717563
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 |
|---|---|---|---|---|---|---|---|---|
| 96170 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Leber congenital amaurosis; Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome; Bardet-Biedl syndrome 14; Joubert syndrome 5; Meckel syndrome, type 4; Senior-Loken syndrome 6; Uterine corpus endometrial carcinoma; Malignant tumor of esophagus | germline | 9 | Feb 04, 2026 | clinvar |