ClinVar Miner

Variants studied for autosomal dominant macrothrombocytopenia

Included ClinVar conditions (6):
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 35 81 8 1 143

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ACTN1 11 21 25 5 0 57
TUBB1 6 7 34 1 1 44
ITGA2B 6 4 20 2 0 30
ITGB3 2 3 1 0 0 6
TUBA8 4 0 1 0 0 5
EFCAB13-DT, ITGB3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 13 11 43 3 1 71
OMIM 16 0 0 0 0 16
Hematology laboratory, Robert Debré Hospital 0 11 0 0 0 11
Baylor Genetics 2 2 4 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 7 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 3 3 0 6
Revvity Omics, Revvity 0 2 3 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 5
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 1 3 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 1 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Mendelics 1 0 1 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 2
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Platelet Disorders/Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center, U Cincinnati College of Medicine 1 0 0 0 0 1
3billion 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 1

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