Variant · Snv
MITF NM_001354604.2(MITF):c.407G>A (p.Arg136Gln)
CI-VAR-00240619Explore in graph →p.Arg136GlnNM_001354604.2:c.407G>AClinVar 1692272 rs750608171
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1692272 | Uncertain significance | criteria provided, multiple submitters, no conflicts | 2 | Hereditary cancer-predisposing syndrome; Tietz syndrome; Melanoma, cutaneous malignant, susceptibility to, 8; Waardenburg syndrome type 2A | germline | 4 | Jan 20, 2026 | clinvar |