ClinVar Miner

Variants in gene GATA2

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 risk factor not provided total
41 33 391 162 34 2 5 640

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 18 5 330 143 15 0 0 511
Lymphedema, primary, with myelodysplasia 8 4 52 5 23 0 0 92
not provided 14 19 17 39 0 0 0 88
not specified 0 0 6 8 11 0 5 26
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 12 1 5 0 0 0 0 18
Acute myeloid leukemia; Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency; Myelodysplastic syndrome 0 0 6 0 0 0 0 6
Leukemia, acute myeloid, susceptibility to 2 3 0 0 0 1 0 6
Acute myeloid leukemia 0 2 2 0 0 0 0 4
none provided 0 0 1 1 2 0 0 4
Myelodysplastic syndrome 0 1 0 0 0 2 0 3
Anemia; Splenomegaly 0 0 1 0 0 0 0 1
multilineage dysplasia 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 19 4 330 152 15 0 0 520
Illumina Clinical Services Laboratory,Illumina 0 0 49 4 23 0 0 76
PreventionGenetics, PreventionGenetics 11 16 15 10 7 0 0 59
Genetic Services Laboratory, University of Chicago 2 3 6 4 4 0 0 19
OMIM 15 0 0 0 0 2 0 16
Mendelics 1 3 1 1 0 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 0 0 6
ITMI 0 0 0 0 0 0 5 5
Baylor Genetics 1 0 3 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 2 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 3 0 0 3
Blueprint Genetics 0 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 0 2
GeneDx 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 0 1
Godley laboratory, The University of Chicago 0 1 0 0 0 0 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 1
Pediatric Hematology-Oncology Program,Instituto Nacional de Cancer 1 0 0 0 0 0 0 1

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