Variant · Snv
COL1A1 NM_000088.4(COL1A1):c.1300-8C>G
CI-VAR-00042355Explore in graph →NM_000088.4:c.1300-8C>GClinVar 235542 rs41317361
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 235542 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Infantile cortical hyperostosis; Osteogenesis imperfecta; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome; Sarcoma; Lung cancer; Gastric cancer; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Malignant tumor of esophagus; Clear cell carcinoma of kidney; Cervical cancer | germline | 14 | Feb 04, 2026 | clinvar |