ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1878-45dup

dbSNP: rs35293792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000087111 SCV000119972 benign Leukocyte adhesion deficiency 1 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV001723674 SCV001949823 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488386 SCV004232854 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 21% of patients studied by a panel of primary immunodeficiencies. Number of patients: 20. Only high quality variants are reported.

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