Variant · Snv
COL11A2 NM_080680.3(COL11A2):c.2628+3G>A
CI-VAR-00008719Explore in graph →NM_080680.3:c.2628+3G>AClinVar 46560 rs970901
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 |
|---|---|---|---|---|---|---|---|---|
| 46560 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Otospondylomegaepiphyseal dysplasia, autosomal recessive; Fibrochondrogenesis 2; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Autosomal dominant nonsyndromic hearing loss 13; Autosomal recessive nonsyndromic hearing loss 53; Hepatocellular carcinoma; Familial cancer of breast | germline | 15 | May 08, 2026 | clinvar |