ClinVar Miner

Variants in gene GATA2

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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
36 32 305 117 34 2 5 503

Condition and significance breakdown #

Total conditions: 10
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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 12 5 246 78 15 0 0 356
Lymphedema, primary, with myelodysplasia 8 4 50 5 23 0 0 90
not provided 12 19 16 39 0 0 0 86
not specified 0 0 6 8 11 0 5 26
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 11 1 2 0 0 0 0 14
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 0 0 0 0 0 2
Myelodysplastic syndrome 0 0 0 0 0 2 0 2
Anemia; Splenomegaly 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 13 4 246 107 15 0 0 385
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
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 0 0 0 0 2
GeneDx 1 0 0 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 0 1

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