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 total
63 62 456 148 84 745

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial platelet disorder with associated myeloid malignancy 41 22 427 125 70 660
not provided 14 17 25 36 4 96
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 8 15 10 9 34 76
not specified 0 0 8 6 5 19
Thrombocytopenia 4 11 1 0 0 16
Acute myeloid leukemia 1 7 5 0 0 13
Abnormal bleeding; Thrombocytopenia 4 7 1 0 0 12
Familial platelet disorder with associated myeloid malignancy; Acute myeloid leukemia 0 0 2 0 0 2
Storage pool disease of platelets 0 2 0 0 0 2
Abnormal platelet function 0 0 1 0 0 1
Anaplastic ependymoma 0 0 1 0 0 1
Inherited bleeding disorder, platelet-type 1 0 0 0 0 1
Leukemia, acute myeloid, m0 subtype 1 0 0 0 0 1
Myelodysplasia 1 0 0 0 0 1
Pancytopenia 0 1 0 0 0 1
Papillary thyroid carcinoma 0 0 1 0 0 1
Pilocytic astrocytoma 0 0 1 0 0 1
TAFRO syndrome 0 1 0 0 0 1
Transient myeloproliferative disorder of Down syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 27 11 348 119 16 521
ClinGen Myeloid Malignancy Variant Curation Expert Panel 25 26 28 15 52 146
Illumina Clinical Services Laboratory,Illumina 0 0 75 13 57 145
PreventionGenetics, PreventionGenetics 9 16 20 17 5 67
NIHR Bioresource Rare Diseases, University of Cambridge 2 14 2 0 0 18
Birmingham Platelet Group; University of Birmingham 4 7 1 0 0 12
Genetic Services Laboratory, University of Chicago 1 1 7 1 1 11
OMIM 9 0 0 0 0 9
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 1 0 0 0 4 5
Bone Marrow Failure laboratory,Queen Mary University London 4 1 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 2 0 0 5
Database of Curated Mutations (DoCM) 0 5 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 1 3 0 0 4
GeneDx 0 0 3 0 0 3
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 3 0 0 3
Baylor Genetics 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Mendelics 0 0 0 1 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 1
Malcovati Lab, University of Pavia 1 0 0 0 0 1

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