Variant · Snv
EYA1 NM_000503.6(EYA1):c.1699-3C>T
CI-VAR-00008755Explore in graph →NM_000503.6:c.1699-3C>TClinVar 48105 rs117149407
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 |
|---|---|---|---|---|---|---|---|---|
| 48105 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Otofaciocervical syndrome 1; Branchiootic syndrome 1; Melnick-Fraser syndrome; Malignant tumor of esophagus; Ovarian cancer; Uterine carcinosarcoma; Acute myeloid leukemia; Clear cell carcinoma of kidney; Familial pancreatic carcinoma; Sarcoma; Ovarian serous cystadenocarcinoma; Thymoma | germline | 11 | Feb 01, 2026 | clinvar |