Variant · Deletion
SMCHD1 NM_015295.3(SMCHD1):c.2604-7del
CI-VAR-00047709Explore in graph →NM_015295.3:c.2604-7delClinVar 260639 rs142973168
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 |
|---|---|---|---|---|---|---|---|---|
| 260639 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Facioscapulohumeral muscular dystrophy 2; Malignant tumor of esophagus; Gastric cancer; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Colorectal cancer; Glioma susceptibility 1 | germline | 4 | Aug 18, 2025 | clinvar |