Variant · Snv
RUNX1 NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)
CI-VAR-00110401Explore in graph →p.Asp198ValNM_001754.5:c.593A>TClinVar 627342 rs1569061786
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 |
|---|---|---|---|---|---|---|---|---|
| 627342 | Likely pathogenic | reviewed by expert panel | 3 | Thrombocytopenia; Abnormal bleeding; Hereditary thrombocytopenia and hematologic cancer predisposition syndrome; RUNX1-related disorder; Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | germline | 5 | Aug 28, 2024 | clinvar |