ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu)

gnomAD frequency: 0.00002  dbSNP: rs137852614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000010074 SCV003820797 pathogenic Leukocyte adhesion deficiency 1 2022-08-17 criteria provided, single submitter clinical testing
OMIM RCV000010074 SCV000030295 pathogenic Leukocyte adhesion deficiency 1 1992-03-15 no assertion criteria provided literature only
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University RCV000010074 SCV002576500 pathogenic Leukocyte adhesion deficiency 1 no assertion criteria provided clinical testing

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