Variant · Snv
COL6A1 NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
CI-VAR-00018159Explore in graph →p.Lys814ArgNM_001848.3:c.2441A>GClinVar 93859 rs11553518
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 |
|---|---|---|---|---|---|---|---|---|
| 93859 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Collagen 6-related myopathy; Bethlem myopathy 1A; Uterine carcinosarcoma; Thymoma; Thyroid cancer, nonmedullary, 1; Melanoma; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Acute myeloid leukemia; Nonpapillary renal cell carcinoma; Cervical cancer; Uterine corpus endometrial carcinoma; Sarcoma; Malignant tumor of esophagus; Lung cancer | germline | 13 | Feb 01, 2026 | clinvar |