ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
117 31 777 453 80 4 1430

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 112 30 774 453 80 4 1421
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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 104 14 690 443 25 0 1276
Illumina Laboratory Services, Illumina 0 0 69 3 56 0 128
ClinGen Myeloid Malignancy Variant Curation Expert Panel 6 7 36 22 14 0 85
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 10 0 0 0 10
OMIM 8 0 0 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 4 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
3billion 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Department of Hematology - Research Laboratory 1, Postgraduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Genetic Service Laboratory, Queen Elizabeth Hospital 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Malcovati Lab, University of Pavia 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 1 0 0 0 1
RUNX1 Natural History Study, National Human Genome Research Institute/National Institutes of Health 1 0 0 0 0 0 1

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