Variant · Snv
UCHL1 NM_004181.5(UCHL1):c.45+6T>C
CI-VAR-00050884Explore in graph →NM_004181.5:c.45+6T>CClinVar 348769 rs11556273
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 |
|---|---|---|---|---|---|---|---|---|
| 348769 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Parkinson disease 5, autosomal dominant, susceptibility to; Clear cell carcinoma of kidney; Uveal melanoma; Familial pancreatic carcinoma; Malignant lymphoma, large B-cell, diffuse; Nonpapillary renal cell carcinoma; Ovarian cancer; Uterine carcinosarcoma; Cholangiocarcinoma; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Lymphoma; Thymoma | germline | 7 | Feb 03, 2026 | clinvar |