Variant · Deletion
RAPSN NM_005055.5(RAPSN):c.691-11del
CI-VAR-00031788Explore in graph →NM_005055.5:c.691-11delClinVar 197249 rs34729771
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 |
|---|---|---|---|---|---|---|---|---|
| 197249 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Congenital myasthenic syndrome; Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 1; Fetal akinesia deformation sequence 2; Uterine carcinosarcoma; Cholangiocarcinoma; Lung cancer | germline | 10 | Jun 12, 2026 | clinvar |