Variant · Snv
COL1A2 NM_000089.4(COL1A2):c.937-3C>T
CI-VAR-00047282Explore in graph →NM_000089.4:c.937-3C>TClinVar 254958 rs42519
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 |
|---|---|---|---|---|---|---|---|---|
| 254958 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Osteogenesis imperfecta; Ehlers-Danlos syndrome, arthrochalasia type, 2; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type III; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta with normal sclerae, dominant form; Ehlers-Danlos syndrome; Cardiovascular phenotype; Hepatocellular carcinoma; Familial cancer of breast | germline | 17 | Feb 04, 2026 | clinvar |