Variant · Deletion
POMGNT1 NM_017739.4(POMGNT1):c.1212-3_1212-2del
CI-VAR-00068284Explore in graph →NM_017739.4:c.1212-3_1212-2delClinVar 424898 rs1064797111
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 424898 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy; Familial pancreatic carcinoma | germline | 5 | Jan 24, 2023 | clinvar |