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
33 6 97 27 32 15 181

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leukocyte adhesion deficiency type 1 15 3 51 10 20 11 108
Leukocyte adhesion deficiency 15 0 49 14 10 0 87
not provided 7 3 1 1 0 4 16
not specified 0 0 0 2 7 0 9

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 4 0 49 10 19 0 82
Illumina Clinical Services Laboratory,Illumina 1 0 50 14 10 0 75
Genomic Research Center,Shahid Beheshti University of Medical Sciences 12 1 0 0 1 11 25
OMIM 15 0 0 0 0 0 15
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
Blueprint Genetics 1 1 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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