ClinVar Miner

Variants studied for Congenital amegakaryocytic thrombocytopenia

Coded as:
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
26 53 79 37 15 192

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MPL 26 53 79 37 15 192

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 44 24 9 77
Natera, Inc. 7 3 22 13 7 52
Myriad Genetics, Inc. 1 31 0 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 5 0 0 0 18
Counsyl 1 0 6 5 2 14
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 4 4 1 0 0 9
OMIM 8 0 0 0 0 8
Baylor Genetics 2 1 1 0 0 4
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 4
Genome-Nilou Lab 2 0 2 0 0 4
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 3 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 3
3billion 0 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Suma Genomics 1 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 1

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