Variant · Snv
USH2A NM_206933.4(USH2A):c.848+5G>C
CI-VAR-00008770Explore in graph →NM_206933.4:c.848+5G>CClinVar 48602 rs74329863
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 |
|---|---|---|---|---|---|---|---|---|
| 48602 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Usher syndrome type 2A; Retinitis pigmentosa; Retinitis pigmentosa 39; Familial pancreatic carcinoma; Ovarian cancer | germline | 10 | Jun 01, 2026 | clinvar |