The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
- A total of 1 agent tags present inside the record were found empty! Certain information might be missing from this record.
Variant: NM_001754.5:c.968del
CA2573320718
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: df9db754-0c0d-421c-b101-7a89b3756f07
Approved on: 2023-12-09
Published on: 2023-12-09
HGVS expressions
NM_001754.5:c.968del
NC_000021.9:g.34792610del
CM000683.2:g.34792610del
NC_000021.8:g.36164907del
CM000683.1:g.36164907del
NC_000021.7:g.35086777del
NG_011402.2:g.1197102del
ENST00000675419.1:c.968del
ENST00000300305.7:c.968del
ENST00000344691.8:c.887del
ENST00000399240.5:c.695del
ENST00000437180.5:c.968del
ENST00000482318.5:c.*558del
NM_001001890.2:c.887del
NM_001754.4:c.968del
NM_001001890.3:c.887del
Evidence submitted by expert panel
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