ClinVar Miner

Variants studied for Glanzmann thrombasthenia

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
246 167 375 166 59 912

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ITGA2B 146 100 248 142 28 598
ITGB3 82 53 73 14 18 213
EFCAB13-DT, ITGB3 4 3 42 7 11 63
ITGA2B, LOC130060983 6 3 2 3 1 13
ITGB3, LOC130061043 1 3 2 0 0 6
ITGB3, LOC130061044 4 3 0 0 0 6
ITGB3, LOC130061045 3 2 2 0 0 6
ITGB3, LOC130061041 0 0 3 0 1 4
ITGB3, LOC110121475 0 0 2 0 0 2
​intergenic 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 207 133 142 23 34 539
Invitae 19 6 132 129 27 313
Illumina Laboratory Services, Illumina 0 0 120 18 35 173
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 21 16 15 0 0 51
OMIM 27 0 0 0 0 27
NIHR Bioresource Rare Diseases, University of Cambridge 7 13 5 0 0 25
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine 7 1 1 0 0 9
3billion 4 0 4 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 4 2 1 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Baylor Genetics 1 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 1 0 0 2
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.