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
28 34 76 7 1 135

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 20 22 4 0 53
TUBB1 6 7 32 1 1 42
ITGA2B 4 4 20 2 0 28
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: 25
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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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 4 0 0 5
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 1 3 0 0 5
MGZ Medical Genetics Center 0 1 2 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
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

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