ClinVar Miner

Variants in gene RUNX1

Minimum submission review status: Collection method:
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Gene type:
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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
30 46 204 147 38 428

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial platelet disorder with associated myeloid malignancy 20 12 183 71 22 293
not provided 11 16 24 86 18 147
not specified 0 0 8 7 5 19
Thrombocytopenia 2 11 1 0 0 14
Acute myeloid leukemia 0 5 0 0 0 5
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
Leukemia, acute myeloid, m0 subtype 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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 3 143 84 15 254
Illumina Clinical Services Laboratory,Illumina 0 0 36 54 13 103
PreventionGenetics,PreventionGenetics 9 16 20 17 5 67
ClinGen Myeloid Malignancy Variant Curation Expert Panel 14 8 15 5 10 52
NIHR Bioresource Rare Diseases, University of Cambridge 2 14 2 0 0 18
Genetic Services Laboratory, University of Chicago 1 1 7 2 0 11
OMIM 9 0 0 0 0 9
Database of Curated Mutations (DoCM) 0 5 0 0 0 5
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 1 0 0 0 4 5
GeneDx 0 0 3 0 0 3
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 3 0 0 3
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
CeGaT Praxis fuer Humangenetik Tuebingen 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

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