Variant · Snv
ELN NM_000501.4(ELN):c.1150+1G>A
CI-VAR-00025836Explore in graph →NM_000501.4:c.1150+1G>AClinVar 163391 rs727503030
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 |
|---|---|---|---|---|---|---|---|---|
| 163391 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Supravalvar aortic stenosis; Venous malformation; Dural ectasia; Abnormal digit morphology; Hypertelorism; Cutis laxa, autosomal dominant 1; Hepatocellular carcinoma; Cervical cancer | germline | 10 | Sep 10, 2025 | clinvar |