Variant · Snv
MERTK NM_006343.3(MERTK):c.2189+1G>T
CI-VAR-00005478Explore in graph →NM_006343.3:c.2189+1G>TClinVar 5403 rs371956016
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 |
|---|---|---|---|---|---|---|---|---|
| 5403 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Retinitis pigmentosa 38; Inborn genetic diseases; Retinal dystrophy; Autosomal recessive retinitis pigmentosa; Retinitis pigmentosa; Clear cell carcinoma of kidney; MERTK-related disorder | germline | 11 | Jun 27, 2026 | clinvar |