ClinVar Miner

Variants studied for Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
109 29 770 451 81 3 1408

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RUNX1 104 28 767 451 81 3 1399
ATP5PO, CBR1, CBR3, CFAP298, CHAF1B, CLDN14, CLIC6, CRYZL1, DNAJC28, DONSON, DOP1B, DYRK1A, EPCIP, EVA1C, GART, HLCS, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, KCNJ6, MIS18A, MORC3, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, PIGP, RCAN1, RIPPLY3, RUNX1, SCAF4, SETD4, SIM2, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, TTC3, URB1, VPS26C 0 0 1 0 0 0 1
CBR1, CBR3, CHAF1B, CLDN14, DOP1B, MORC3, RUNX1, SETD4 1 0 0 0 0 0 1
CBR1, LINC01436, LOC100506403, LOC101928269, LOC109648314, LOC109648316, LOC109648317, LOC112694741, LOC121627920, LOC121627921, LOC121853028, LOC125418065, LOC125418066, LOC125418067, LOC125418068, LOC126653354, LOC126653355, LOC126653356, LOC126653357, LOC126653358, LOC126653359, LOC126653360, LOC130066593, LOC130066594, LOC130066595, LOC130066596, LOC130066597, LOC130066598, LOC130066599, LOC130066600, LOC130066601, LOC130066602, LOC130066603, LOC130066604, LOC130066605, LOC130066606, LOC130066607, LOC130066608, LOC130066609, LOC130066610, LOC130066611, LOC130066612, LOC130066613, MIR802, RUNX1, RUNX1-IT1, SETD4 0 1 0 0 0 0 1
CLIC6, RUNX1 1 0 0 0 0 0 1
KCNE2, RUNX1 1 0 0 0 0 0 1
LOC109648314, LOC109648316, LOC121627920, LOC121627921, LOC125418065, LOC125418066, LOC126653354, LOC126653355, LOC130066593, LOC130066594, LOC130066595, LOC130066596, LOC130066597, LOC130066598, LOC130066599, LOC130066600, LOC130066601, LOC130066602, LOC130066603, LOC130066604, LOC130066605, LOC130066606, LOC130066607, RUNX1, RUNX1-IT1 0 0 1 0 0 0 1
LOC109648314, LOC109648316, LOC121627920, LOC121627921, LOC125418065, LOC125418066, LOC126653354, LOC126653355, LOC130066593, LOC130066594, LOC130066595, LOC130066596, LOC130066597, LOC130066598, LOC130066599, LOC130066600, LOC130066601, LOC130066602, LOC130066603, LOC130066604, LOC130066605, LOC130066606, RUNX1, RUNX1-IT1 1 0 0 0 0 0 1
LOC109648316, LOC126653354, RUNX1 0 0 1 0 0 0 1
LOC130066607, RUNX1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 97 13 676 431 24 0 1241
Illumina Laboratory Services, Illumina 0 0 75 13 57 0 145
ClinGen Myeloid Malignancy Variant Curation Expert Panel 6 7 39 23 18 0 93
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 8 6 12 0 2 0 28
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 14 0 14
OMIM 8 0 0 0 0 0 8
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 6 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Mendelics 0 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Hematology - Research Laboratory 1, Postgraduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 1
Malcovati Lab, University of Pavia 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
RUNX1 Natural History Study, National Human Genome Research Institute/National Institutes of Health 1 0 0 0 0 0 1
Genetic Service Laboratory, Queen Elizabeth Hospital 0 1 0 0 0 0 1

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