Variant · Snv
MITF NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)
CI-VAR-00170220Explore in graph →p.Arg400TerNM_001354604.2:c.1198C>TClinVar 995923 rs1464157509
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 |
|---|---|---|---|---|---|---|---|---|
| 995923 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Waardenburg syndrome type 2A; Nonsyndromic genetic hearing loss; Tietz syndrome; Melanoma, cutaneous malignant, susceptibility to, 8; Monogenic hearing loss | germline | 8 | Sep 12, 2025 | clinvar |