The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_001754.5(RUNX1):c.*2594_*2597del
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA10644626
339826 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: fef04edf-87f0-4178-8389-289baf2d7318
Approved on: 2025-01-15
Published on: 2025-01-15
HGVS expressions
NM_001754.5:c.*2594_*2597del
NM_001754.5(RUNX1):c.*2594_*2597del
NC_000021.9:g.34789540_34789543del
CM000683.2:g.34789540_34789543del
NC_000021.8:g.36161837_36161840del
CM000683.1:g.36161837_36161840del
NC_000021.7:g.35083707_35083710del
NG_011402.2:g.1200171_1200174del
ENST00000675419.1:c.*2594_*2597del
ENST00000300305.7:c.*2594_*2597del
ENST00000344691.8:c.*2594_*2597del
ENST00000437180.5:c.*2594_*2597del
NM_001001890.2:c.*2594_*2597del
NM_001754.4:c.*2594_*2597del
NM_001001890.3:c.*2594_*2597del
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Evidence submitted by expert panel
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