Variant · Snv
BBS5 NM_152384.3(BBS5):c.39C>G (p.Val13=)
CI-VAR-00047065Explore in graph →p.Val13=NM_152384.3:c.39C>GClinVar 262636 rs10188609
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 262636 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Bardet-Biedl syndrome; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus; Gastric cancer; Thyroid cancer, nonmedullary, 1; Uterine corpus endometrial carcinoma; Sarcoma | germline | 5 | Feb 04, 2026 | clinvar |