ClinVar Miner

Variants in gene RUNX1

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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
185 171 1095 647 135 21 1884

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 111 100 759 464 93 0 1527
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 112 30 774 453 80 4 1421
Inborn genetic diseases 9 14 468 306 11 0 808
not provided 24 34 140 40 32 1 263
Acute myeloid leukemia 6 6 87 3 10 2 111
RUNX1-related disorder 6 5 17 23 3 0 54
not specified 0 0 29 12 12 0 52
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 16 4 1 0 27
Thrombocytopenia 4 11 1 0 0 0 16
Abnormal bleeding; Thrombocytopenia 4 7 1 0 0 0 12
Familial cancer of breast 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Aggressive systemic mastocytosis 0 0 2 0 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Leukemia 2 0 0 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Neoplasm 1 1 0 0 0 0 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 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
Colon adenocarcinoma 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 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
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Myelodysplasia 1 0 0 0 0 0 1
Myelodysplastic syndrome 0 0 1 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
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ClinGen Myeloid Malignancy Variant Curation Expert Panel 117 107 795 486 107 0 1612
Labcorp Genetics (formerly Invitae), Labcorp 99 14 687 444 25 0 1269
Ambry Genetics 9 14 468 306 11 0 808
GeneDx 12 5 111 16 22 0 166
Illumina Laboratory Services, Illumina 0 0 69 3 56 0 128
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 5 27 5 5 0 45
Sema4, Sema4 0 1 19 16 8 0 44
Breakthrough Genomics, Breakthrough Genomics 0 0 5 10 20 0 35
CeGaT Center for Human Genetics Tuebingen 4 3 9 10 2 0 28
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
NIHR Bioresource Rare Diseases, University of Cambridge 2 14 2 0 0 0 18
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 17 17
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 14 0 15
Mayo Clinic Laboratories, Mayo Clinic 2 3 1 2 6 0 14
Birmingham Platelet Group; University of Birmingham 4 7 1 0 0 0 12
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 11 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 3 1 1 3 0 9
OMIM 9 0 0 0 0 0 9
Revvity Omics, Revvity 1 0 8 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 4 0 0 0 7
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 3 0 0 6
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
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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 1 1 0 3
3billion 0 1 0 1 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 1 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 2
Leukemia Research Group, Cancer Lab, Institute of Biochemistry, Biotechnology and Bioinformatics 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 2
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 Medical Genetics, Mumbai 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Department of Hematology - Research Laboratory 1, Postgraduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Genetic Service Laboratory, Queen Elizabeth Hospital 0 1 0 0 0 0 1
Genetics Program, Instituto Nacional de Cancer 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 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
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
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
Malcovati Lab, University of Pavia 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, Fox Chase Cancer Center - Temple Health 1 0 0 0 0 0 1
Molecular Genetic Pathology Unit, University Of Rochester Medical Center 1 0 0 0 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
RUNX1 Natural History Study, National Human Genome Research Institute/National Institutes of Health 1 0 0 0 0 0 1
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 1 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1

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