Variant · Snv
STAT1 NM_007315.4(STAT1):c.633+6T>A
CI-VAR-00050354Explore in graph →NM_007315.4:c.633+6T>AClinVar 333289 rs45459703
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 |
|---|---|---|---|---|---|---|---|---|
| 333289 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; STAT1-related disorder; Lung cancer; Acute myeloid leukemia; Malignant tumor of esophagus | germline | 10 | Jun 01, 2026 | clinvar |