ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.2247+57C>T

dbSNP: rs33973568
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Total submissions: 4
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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 RCV000087113 SCV000119974 benign Leukocyte adhesion deficiency 1 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV001689634 SCV001915016 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488387 SCV004233596 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 34% of patients studied by a panel of primary immunodeficiencies. Number of patients: 32. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001689634 SCV005273953 benign not provided criteria provided, single submitter not provided

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