Variant · Snv
SGCB NM_000232.5(SGCB):c.243+6T>A
CI-VAR-00093421Explore in graph →NM_000232.5:c.243+6T>AClinVar 516368 rs146888744
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 |
|---|---|---|---|---|---|---|---|---|
| 516368 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Autosomal recessive limb-girdle muscular dystrophy type 2E; Qualitative or quantitative defects of beta-sarcoglycan; Hepatocellular carcinoma | germline | 7 | Jan 25, 2026 | clinvar |