ClinVar Miner

Variants in gene ITGB2

Minimum submission review status: Collection method:
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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 not provided total
39 10 231 99 53 11 398

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leukocyte adhesion deficiency 1 32 7 227 83 52 7 369
not provided 8 3 2 21 0 4 38
not specified 0 0 0 2 7 0 9
Leukocyte adhesion deficiency 0 0 2 1 0 0 3
Inborn genetic diseases 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 1 161 85 30 0 287
Illumina Clinical Services Laboratory,Illumina 1 0 86 15 28 0 130
Genomic Research Center, Shahid Beheshti University of Medical Sciences 11 2 0 0 5 7 25
OMIM 14 0 0 0 0 0 14
GeneDx 6 2 0 2 1 0 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 6 0 6
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 0 0 0 3
Ambry Genetics 2 0 0 0 0 0 2
Baylor Genetics 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
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 0 0 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

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