Variant · Deletion
CFTR NM_000492.3(CFTR):c.1210-12T[5]
CI-VAR-00032307Explore in graph →NM_000492.3:c.1210-12T[5]ClinVar 242535 rs1805177
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 |
|---|---|---|---|---|---|---|---|---|
| 242535 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF; Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation; CFTR-related disorder; Obstructive azoospermia; Hereditary pancreatitis; Congenital bilateral absence of vas deferens; Bronchiectasis with or without elevated sweat chloride 1; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Ovarian cancer; Cystic fibrosis diagnostic test; Colon adenocarcinoma; Cholangiocarcinoma; Familial pancreatic carcinoma; Gastric cancer; Fetal anomalies with a likely genetic cause | germline | 31 | Aug 19, 2026 | clinvar |