Variant · Snv
POMT1 NM_001077365.2(POMT1):c.1826-7C>A
CI-VAR-00020458Explore in graph →NM_001077365.2:c.1826-7C>AClinVar 130010 rs148180760
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 |
|---|---|---|---|---|---|---|---|---|
| 130010 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Autosomal recessive limb-girdle muscular dystrophy type 2K; Walker-Warburg congenital muscular dystrophy; Thymoma; Acute myeloid leukemia; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Lung cancer; Sarcoma; Lymphoma; Cervical cancer; Ovarian cancer; Gastric cancer; Ovarian serous cystadenocarcinoma; Familial cancer of breast; Uterine corpus endometrial carcinoma | germline | 12 | Jul 01, 2026 | clinvar |