ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.616C>T (p.His206Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" RCV002284057 SCV002573420 pathogenic Leukocyte adhesion deficiency 1 2022-05-01 no assertion criteria provided clinical testing

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