Variant · Snv
COL3A1 NM_000090.4(COL3A1):c.1815+5G>A
CI-VAR-00031731Explore in graph →NM_000090.4:c.1815+5G>AClinVar 195847 rs146652498
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 |
|---|---|---|---|---|---|---|---|---|
| 195847 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Connective tissue disorder; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome; Hepatocellular carcinoma; Ovarian cancer | germline | 14 | Jan 28, 2026 | clinvar |