ClinVar Miner

Variants studied for GATA2 deficiency with susceptibility to MDS/AML

Included ClinVar conditions (4):
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
30 10 293 81 30 435

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GATA2 29 10 293 81 30 434
ACAD9, GATA2, LINC01565, RAB7A, RPN1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 4 246 78 15 357
Illumina Clinical Services Laboratory,Illumina 0 0 49 4 23 76
OMIM 15 0 0 0 0 15
Mendelics 1 3 1 1 0 6
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 0 0 2
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 1

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