Variant · Deletion
COL5A2 NM_000393.5(COL5A2):c.961-3del
CI-VAR-00049748Explore in graph →NM_000393.5:c.961-3delClinVar 285912 rs542134887
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 |
|---|---|---|---|---|---|---|---|---|
| 285912 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome, classic type, 2; Sarcoma; Papillary renal cell carcinoma type 1 | germline | 9 | Jan 20, 2026 | clinvar |