ClinVar Miner

Variants in gene MPL

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 risk factor not provided total
118 110 266 406 29 1 25 842

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 102 24 141 367 15 0 0 649
Congenital amegakaryocytic thrombocytopenia 22 52 78 37 15 0 0 189
not provided 15 10 30 17 16 0 0 77
not specified 0 0 26 19 9 0 25 64
Thrombocythemia 1 0 0 19 31 1 0 0 51
Primary myelofibrosis; Thrombocythemia 2; Congenital amegakaryocytic thrombocytopenia 1 10 29 4 0 0 0 0 43
MPL-related disorder 5 6 16 13 1 0 0 40
Inborn genetic diseases 0 0 35 4 0 0 0 39
Congenital amegakaryocytic thrombocytopenia 1 12 6 1 0 0 0 0 19
Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2 1 3 7 1 0 0 0 12
Thrombocythemia 2 3 1 5 0 0 1 0 9
Abnormal bleeding; Thrombocytopenia 0 0 3 0 0 0 0 3
Thrombocytopenia 1 2 0 0 0 0 0 3
Myelofibrosis with myeloid metaplasia 2 0 0 0 0 0 0 2
Primary myelofibrosis 2 0 0 0 0 0 0 2
Congenital amegakaryocytic thrombocytopenia; Thrombocythemia 1 0 0 1 0 0 0 0 1
Thrombocythemia 2, somatic 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 102 24 142 367 15 0 0 650
Illumina Laboratory Services, Illumina 1 1 43 33 9 0 0 78
Fulgent Genetics, Fulgent Genetics 11 32 9 1 0 0 0 53
Natera, Inc. 7 3 22 13 7 0 0 52
PreventionGenetics, part of Exact Sciences 5 5 16 19 5 0 0 50
Genetic Services Laboratory, University of Chicago 10 5 15 7 5 0 0 42
GeneDx 7 1 14 2 15 0 0 39
Ambry Genetics 0 0 35 4 0 0 0 39
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 14 5 11 5 2 0 0 37
Myriad Genetics, Inc. 1 31 0 0 0 0 0 32
ITMI 0 0 0 0 0 0 25 25
CeGaT Center for Human Genetics Tuebingen 2 2 7 8 0 0 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 2 10 4 0 0 16
Counsyl 1 0 6 5 2 0 0 14
OMIM 11 0 0 0 0 1 0 12
Revvity Omics, Revvity 5 3 3 0 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 3 2 5 1 0 0 0 11
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 4 4 1 0 0 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 0 2 3 0 0 7
Baylor Genetics 2 1 2 0 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 0 4
Genome-Nilou Lab 2 0 2 0 0 0 0 4
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 3 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 1 0 0 0 3
Birmingham Platelet Group; University of Birmingham 0 0 3 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 1 0 0 0 3
3billion 0 2 1 0 0 0 0 3
Mendelics 1 0 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 1 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 0 2
Suma Genomics 1 0 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 0 0 0 1

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