The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- No ClinVar Id was directly found from the curated document
Variant: NM_001754.5:c.637_638del
CA1139771058
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 28f414d3-a403-43fc-91c7-c2ef9055f497
Approved on: 2024-03-26
Published on: 2024-03-26
HGVS expressions
NM_001754.5:c.637_638del
NC_000021.9:g.34834577_34834578del
CM000683.2:g.34834577_34834578del
NC_000021.8:g.36206874_36206875del
CM000683.1:g.36206874_36206875del
NC_000021.7:g.35128744_35128745del
NG_011402.2:g.1155134_1155135del
ENST00000675419.1:c.637_638del
ENST00000300305.7:c.637_638del
ENST00000344691.8:c.556_557del
ENST00000358356.9:c.556_557del
ENST00000399237.6:c.601_602del
ENST00000399240.5:c.532+24896_532+24897del
ENST00000437180.5:c.637_638del
ENST00000469087.1:n.173_174del
ENST00000482318.5:c.*227_*228del
NM_001001890.2:c.556_557del
NM_001122607.1:c.556_557del
NM_001754.4:c.637_638del
NM_001001890.3:c.556_557del
NM_001122607.2:c.556_557del
Evidence submitted by expert panel
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