ClinVar Miner

Variants in gene RUNX1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
169 150 1018 567 133 4 1643

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 105 94 811 376 93 0 1479
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 104 29 766 451 79 3 1401
Inborn genetic diseases 3 1 183 143 11 0 341
not provided 22 29 124 35 32 1 237
Acute myeloid leukemia 5 6 87 3 10 0 109
RUNX1-related disorder 6 5 17 23 3 0 54
not specified 0 0 28 10 9 0 47
Hereditary cancer-predisposing syndrome 0 1 19 16 8 0 44
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Acute myeloid leukemia 3 3 15 4 1 0 26
Thrombocytopenia 4 11 1 0 0 0 16
Abnormal bleeding; Thrombocytopenia 4 7 1 0 0 0 12
Aggressive systemic mastocytosis 0 0 2 0 0 0 2
Storage pool disease of platelets 0 2 0 0 0 0 2
Abnormal platelet function 0 0 1 0 0 0 1
Anaplastic ependymoma 0 0 1 0 0 0 1
Atypical chronic myeloid leukemia, BCR-ABL1 negative 1 0 0 0 0 0 1
Castleman-Kojima disease 0 1 0 0 0 0 1
Clonal Cytopenia of Undetermined Significance 1 0 0 0 0 0 1
Inherited bleeding disorder, platelet-type 1 0 0 0 0 0 1
LEUKEMIA, ACUTE MYELOID, M0 SUBTYPE 1 0 0 0 0 0 1
Myelodysplasia 1 0 0 0 0 0 1
Pancytopenia 0 1 0 0 0 0 1
TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ClinGen Myeloid Malignancy Variant Curation Expert Panel 111 101 848 398 107 0 1565
Labcorp Genetics (formerly Invitae), Labcorp 92 13 673 432 24 0 1234
Ambry Genetics 3 1 183 143 11 0 341
GeneDx 10 5 100 16 22 0 153
Illumina Laboratory Services, Illumina 0 0 75 13 57 0 145
PreventionGenetics, part of Exact Sciences 15 21 32 38 8 0 114
Baylor Genetics 0 2 83 1 0 0 86
Genetic Services Laboratory, University of Chicago 3 4 27 5 5 0 44
Sema4, Sema4 0 1 19 16 8 0 44
Breakthrough Genomics, Breakthrough Genomics 0 0 5 10 20 0 35
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 8 5 12 0 2 0 27
Fulgent Genetics, Fulgent Genetics 2 3 13 2 1 0 21
CeGaT Center for Human Genetics Tuebingen 4 3 6 6 2 0 21
NIHR Bioresource Rare Diseases, University of Cambridge 2 14 2 0 0 0 18
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 14 0 15
Birmingham Platelet Group; University of Birmingham 4 7 1 0 0 0 12
OMIM 9 0 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 1 1 3 0 7
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 7 0 0 0 7
Revvity Omics, Revvity 1 0 5 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Nadeem Sheikh Lab, University of the Punjab 3 2 1 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 3 0 0 0 5
Bone Marrow Failure laboratory, Queen Mary University London 4 1 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 1 4 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 2 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 1 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
3billion 0 1 0 1 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 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
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 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
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 1 0 0 0 0 0 1
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 1 0 0 0 0 0 1
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 1 0 0 0 0 0 1

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