Variant · Deletion
KARS1 NM_005548.3(KARS1):c.223-8_223-6del
CI-VAR-00132233Explore in graph →NM_005548.3:c.223-8_223-6delClinVar 778613 rs370077957
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 |
|---|---|---|---|---|---|---|---|---|
| 778613 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Autosomal recessive nonsyndromic hearing loss 89; Charcot-Marie-Tooth disease recessive intermediate B; Leukoencephalopathy, progressive, infantile-onset, with or without deafness; Deafness, congenital, and adult-onset progressive leukoencephalopathy; Uterine corpus endometrial carcinoma | germline | 5 | Sep 10, 2024 | clinvar |