Variant · Deletion
SLC12A6 NM_001365088.1(SLC12A6):c.2436+1del
CI-VAR-00070686Explore in graph →NM_001365088.1:c.2436+1delClinVar 436730 rs515726215
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 |
|---|---|---|---|---|---|---|---|---|
| 436730 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Agenesis of the corpus callosum with peripheral neuropathy; Charcot-Marie-Tooth disease; SLC12A6-related disorder; Charcot-Marie-Tooth disease, axonal, IIa 2II; Melanoma | germline | 16 | Jan 22, 2026 | clinvar |