Variant · Snv
CNTNAP2 NM_014141.6(CNTNAP2):c.3716-6C>G
CI-VAR-00018234Explore in graph →NM_014141.6:c.3716-6C>GClinVar 95572 rs77025884
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 |
|---|---|---|---|---|---|---|---|---|
| 95572 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Cortical dysplasia-focal epilepsy syndrome; Autism, susceptibility to, 15; Malignant lymphoma, large B-cell, diffuse; Acute myeloid leukemia; Lymphoma; Nonpapillary renal cell carcinoma; Uterine corpus endometrial carcinoma; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Lung cancer; Familial cancer of breast; Ovarian cancer | germline | 14 | Feb 04, 2026 | clinvar |