ClinVar Miner

Variants studied for congenital amegakaryocytic thrombocytopenia

Included ClinVar conditions (5):
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
109 76 161 367 20 683

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 109 76 161 367 20 683

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 96 23 95 343 15 572
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
Fulgent Genetics, Fulgent Genetics 5 5 7 1 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Neuberg Centre For Genomic Medicine, NCGM 1 2 1 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 0 0 3
3billion 0 2 1 0 0 3
Suma Genomics 1 0 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 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

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