Variant · Snv
JPH2 NM_020433.5(JPH2):c.1041C>A (p.Val347=)
CI-VAR-00195752Explore in graph →p.Val347=NM_020433.5:c.1041C>AClinVar 1157122 rs1035583608
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 |
|---|---|---|---|---|---|---|---|---|
| 1157122 | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Hypertrophic cardiomyopathy; Cardiovascular phenotype; Malignant tumor of urinary bladder | germline | 3 | Apr 02, 2025 | clinvar |