ClinVar Miner

Variants studied for Glanzmann thrombasthenia

Included ClinVar conditions (6):
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 total
263 174 388 171 61 943

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ITGA2B 157 102 257 143 29 615
ITGB3 87 57 76 18 19 225
EFCAB13-DT, ITGB3 5 4 42 7 11 65
ITGA2B, LOC130060983 6 3 3 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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 223 136 157 31 37 584
Labcorp Genetics (formerly Invitae), Labcorp 20 6 132 129 27 314
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 6 0 0 0 13
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine 7 1 1 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 5 2 2 0 0 9
3billion 4 0 4 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 3 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 3 0 0 0 4
Baylor Genetics 2 1 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1

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