Variant · Snv
FOLR1 NM_016729.3(FOLR1):c.493+2T>C
CI-VAR-00018243Explore in graph →NM_016729.3:c.493+2T>CClinVar 95750 rs144637717
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 |
|---|---|---|---|---|---|---|---|---|
| 95750 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Cerebral folate transport deficiency; Seizure; Inborn genetic diseases; FOLR1-related disorder; Thyroid cancer, nonmedullary, 1; Lung cancer; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma | germline | 15 | May 01, 2026 | clinvar |