Variant · Deletion
PLEC NM_201384.3(PLEC):c.2305-10del
CI-VAR-00018044Explore in graph →NM_201384.3:c.2305-10delClinVar 93039 rs142120912
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 |
|---|---|---|---|---|---|---|---|---|
| 93039 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Epidermolysis bullosa simplex, Ogna type; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex 5C, with pyloric atresia; Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex 5B, with muscular dystrophy; Familial cancer of breast | germline | 7 | Feb 03, 2026 | clinvar |