Variant · Snv
CFI NM_000204.5(CFI):c.1534+5G>T
CI-VAR-00046381Explore in graph →NM_000204.5:c.1534+5G>TClinVar 252469 rs114013791
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 |
|---|---|---|---|---|---|---|---|---|
| 252469 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Atypical hemolytic-uremic syndrome with I factor anomaly; Atypical hemolytic-uremic syndrome; Age related macular degeneration 13; Factor I deficiency; CFI-related disorder; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Familial pancreatic carcinoma; Familial cancer of breast; Ovarian cancer; Sarcoma; Lymphoma; Adrenocortical carcinoma, hereditary; Cervical cancer; Colon adenocarcinoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Nonpapillary renal cell carcinoma; Lung cancer; Uterine carcinosarcoma; Thymoma; Acute myeloid leukemia; Malignant tumor of esophagus | germline | 15 | Jun 01, 2026 | clinvar |