Variant · Snv
COL6A1 NM_001848.3(COL6A1):c.1814-6C>G
CI-VAR-00018157Explore in graph →NM_001848.3:c.1814-6C>GClinVar 93830 rs182804464
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 |
|---|---|---|---|---|---|---|---|---|
| 93830 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Collagen 6-related myopathy; Bethlem myopathy 1A; Lung cancer; Cervical cancer; Familial cancer of breast; Clear cell carcinoma of kidney; Uveal melanoma; Sarcoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Thymoma; Acute myeloid leukemia; Cholangiocarcinoma; Malignant tumor of esophagus | germline | 13 | May 01, 2026 | clinvar |