Variant · Snv
DYSF NM_001130987.2(DYSF):c.2697+1G>A
CI-VAR-00018179Explore in graph →NM_001130987.2:c.2697+1G>AClinVar 94291 rs140108514
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 |
|---|---|---|---|---|---|---|---|---|
| 94291 | Pathogenic | reviewed by expert panel | 3 | Autosomal recessive limb-girdle muscular dystrophy type 2B; Miyoshi muscular dystrophy 1; Neuromuscular disease caused by qualitative or quantitative defects of dysferlin; Distal myopathy with anterior tibial onset; DYSF-related disorder; Autosomal recessive limb-girdle muscular dystrophy; Clear cell carcinoma of kidney; Papillary renal cell carcinoma type 1 | germline | 19 | Jan 08, 2025 | clinvar |