Variant · Snv
EPAS1 NM_001430.5(EPAS1):c.218-11C>G
CI-VAR-00050445Explore in graph →NM_001430.5:c.218-11C>GClinVar 336241 rs75591953
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 |
|---|---|---|---|---|---|---|---|---|
| 336241 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Erythrocytosis, familial, 4; Pancreatic adenocarcinoma; Squamous cell carcinoma of the head and neck; Gastric cancer; Cervical cancer; Uterine corpus endometrial carcinoma; Ovarian cancer | germline | 3 | Jan 01, 2023 | clinvar |