Variant · Snv
POMT1 NM_001077365.2(POMT1):c.1826-6C>A
CI-VAR-00020457Explore in graph →NM_001077365.2:c.1826-6C>AClinVar 130009 rs140258585
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 |
|---|---|---|---|---|---|---|---|---|
| 130009 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy; Gastric cancer; Lymphoma; Ovarian serous cystadenocarcinoma; Thymoma; Uterine corpus endometrial carcinoma; Malignant tumor of esophagus; Lung cancer; Sarcoma; Acute myeloid leukemia; Nonpapillary renal cell carcinoma; Cervical cancer; Familial cancer of breast; Ovarian cancer | germline | 12 | Jul 01, 2026 | clinvar |