Variant · Deletion
TTN NM_001267550.2(TTN):c.48161-4del
CI-VAR-00071750Explore in graph →NM_001267550.2:c.48161-4delClinVar 448800 rs730880371
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 448800 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Autosomal recessive limb-girdle muscular dystrophy type 2J; Dilated cardiomyopathy 1G; Colon adenocarcinoma; Familial cancer of breast | germline | 4 | Feb 14, 2023 | clinvar |