Variant · Snv
ITGA6 NM_000210.4(ITGA6):c.2247C>G (p.Val749=)
CI-VAR-00050353Explore in graph →p.Val749=NM_000210.4:c.2247C>GClinVar 332373 rs61748247
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 |
|---|---|---|---|---|---|---|---|---|
| 332373 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Junctional epidermolysis bullosa with pyloric atresia; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Melanoma; Malignant tumor of esophagus; Clear cell carcinoma of kidney; Lung cancer; Familial cancer of breast; Uterine corpus endometrial carcinoma; Cervical cancer | germline | 6 | Feb 04, 2026 | clinvar |