ClinVar Miner

Variants studied for Platelet-type bleeding disorder 16

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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
7 7 18 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ITGA2B 4 4 18 24
ITGB3 2 3 0 5
EFCAB13-DT, ITGB3 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 4 4 4 12
Baylor Genetics 2 0 2 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 4 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 3 4
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 0 0 3 3
OMIM 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 2
MGZ Medical Genetics Center 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 1
Wangler Lab, Baylor College of Medicine 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 1

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