Variant · Snv
ENAM NM_031889.3(ENAM):c.2288G>A (p.Arg763Gln)
CI-VAR-00047196Explore in graph →p.Arg763GlnNM_031889.3:c.2288G>AClinVar 261985 rs3796704
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 |
|---|---|---|---|---|---|---|---|---|
| 261985 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Amelogenesis imperfecta; Uterine carcinosarcoma; Acute myeloid leukemia; Cholangiocarcinoma; Adrenocortical carcinoma, hereditary; Uveal melanoma; Malignant lymphoma, large B-cell, diffuse; Colorectal cancer | germline | 6 | Nov 26, 2024 | clinvar |