ClinVar Miner

Variants in gene ITGB2

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 not provided total
61 24 341 319 95 12 782

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leukocyte adhesion deficiency 1 56 18 326 311 65 7 723
not provided 10 4 8 9 45 7 79
Inborn genetic diseases 2 0 35 1 0 0 38
ITGB2-related condition 1 1 2 19 4 0 27
not specified 0 0 0 2 20 0 22
Leukocyte adhesion deficiency 0 0 2 1 0 0 3
Leukocyte adhesion deficiency 3 0 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 36 6 261 300 54 0 657
Illumina Laboratory Services, Illumina 1 0 86 15 28 0 130
GeneDx 7 3 1 2 46 0 59
Ambry Genetics 2 0 35 1 0 0 38
PreventionGenetics, part of Exact Sciences 1 1 2 19 4 0 27
Genomic Research Center, Shahid Beheshti University of Medical Sciences 10 2 0 0 6 7 25
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 16 0 16
OMIM 14 0 0 0 0 0 14
Fulgent Genetics, Fulgent Genetics 0 1 6 2 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 6 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 2 1 0 6
CeGaT Center for Human Genetics Tuebingen 2 0 0 3 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Revvity Omics, Revvity 1 2 1 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 4
UniProtKB/Swiss-Prot 0 0 0 0 0 4 4
Mendelics 0 0 0 2 1 0 3
Blueprint Genetics 1 1 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Center for Medical Genetics, GenVams Trust 0 1 0 0 0 0 1
Koker Lab, University of Erciyes Medical School 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1

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