Variant · Snv
PKD2 NM_000297.4(PKD2):c.1094+1G>A
CI-VAR-00049522Explore in graph →NM_000297.4:c.1094+1G>AClinVar 280008 rs58606740
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 |
|---|---|---|---|---|---|---|---|---|
| 280008 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Polycystic kidney disease 2; Polycystic kidney disease; Renal cyst; PKD2-related disorder; Autosomal dominant polycystic kidney disease; Uterine corpus endometrial carcinoma | germline | 18 | May 07, 2026 | clinvar |