Variant · Snv
IL12RB1 NM_005535.3(IL12RB1):c.1791+2T>G
CI-VAR-00107893Explore in graph →NM_005535.3:c.1791+2T>GClinVar 579038 rs554063682
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 |
|---|---|---|---|---|---|---|---|---|
| 579038 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Lung cancer; IL12RB1-related disorders | germline | 6 | Jan 06, 2026 | clinvar |