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 computer assertion could be determined for this classification!
Variant: NM_001754.5(RUNX1):c.351+1_351+2dup
CA891842376
2435494 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 41936abf-d240-4c48-8e8b-ac7209b57145
Approved on: 2024-09-18
Published on: 2024-09-18
HGVS expressions
NM_001754.5:c.351+1_351+2dup
NM_001754.5(RUNX1):c.351+1_351+2dup
NC_000021.9:g.34886841_34886842dup
CM000683.2:g.34886841_34886842dup
NC_000021.8:g.36259138_36259139dup
CM000683.1:g.36259138_36259139dup
NC_000021.7:g.35181008_35181009dup
NG_011402.2:g.1102870_1102871dup
ENST00000675419.1:c.351+1_351+2dup
ENST00000300305.7:c.351+1_351+2dup
ENST00000344691.8:c.270+1_270+2dup
ENST00000358356.9:c.270+1_270+2dup
ENST00000399237.6:c.315+1_315+2dup
ENST00000399240.5:c.270+1_270+2dup
ENST00000437180.5:c.351+1_351+2dup
ENST00000455571.5:c.312+1_312+2dup
ENST00000482318.5:c.59-6129_59-6128dup
NM_001001890.2:c.270+1_270+2dup
NM_001122607.1:c.270+1_270+2dup
NM_001754.4:c.351+1_351+2dup
NM_001001890.3:c.270+1_270+2dup
NM_001122607.2:c.270+1_270+2dup
Evidence submitted by expert panel
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