Variant · Snv
LRP5 NM_002335.4(LRP5):c.4488+2T>G
CI-VAR-00005583Explore in graph →NM_002335.4:c.4488+2T>GClinVar 6287 rs80358322
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 |
|---|---|---|---|---|---|---|---|---|
| 6287 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Exudative vitreoretinopathy 4, autosomal dominant; Familial exudative vitreoretinopathy; Inborn genetic diseases; Exudative vitreoretinopathy 4; Retinal dystrophy; Osteoporosis with pseudoglioma; Ovarian serous cystadenocarcinoma; LRP5-related disorder | germline | 11 | Jan 15, 2026 | clinvar |