Variant · Snv
CREBBP NM_004380.3(CREBBP):c.4133+4A>G
CI-VAR-00031730Explore in graph →NM_004380.3:c.4133+4A>GClinVar 195819 rs372126168
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 |
|---|---|---|---|---|---|---|---|---|
| 195819 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Rubinstein-Taybi syndrome; Inborn genetic diseases; CREBBP-related disorder; Familial cancer of breast; Uterine corpus endometrial carcinoma | germline | 8 | Jan 31, 2026 | clinvar |