ClinVar Miner

Variants in gene GATA2

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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
27 14 175 79 18 2 5 296

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 9 4 146 51 14 0 0 224
Lymphedema, primary, with myelodysplasia 7 1 24 22 1 0 0 55
not specified 0 0 8 8 8 0 5 25
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 11 1 0 0 0 0 0 12
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
not provided 1 3 0 0 0 0 0 4
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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 10 3 146 51 14 0 0 224
Illumina Clinical Services Laboratory,Illumina 0 0 24 22 1 0 0 47
Genetic Services Laboratory, University of Chicago 2 3 8 4 2 0 0 19
OMIM 15 0 0 0 0 2 0 16
PreventionGenetics 0 0 0 6 6 0 0 12
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
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
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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 0 1

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