Variant · Snv
PKD1 NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=)
CI-VAR-00047556Explore in graph →p.Gly2309=NM_001009944.3:c.6927C>TClinVar 256994 rs189277711
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 |
|---|---|---|---|---|---|---|---|---|
| 256994 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Polycystic kidney disease, adult type; Autosomal dominant polycystic kidney disease; Polycystic kidney disease; Colon adenocarcinoma; Sarcoma; Malignant tumor of esophagus; Ovarian serous cystadenocarcinoma; Adrenocortical carcinoma, hereditary; Cervical cancer; Familial cancer of breast | germline | 11 | Apr 25, 2025 | clinvar |