ClinVar Miner

Submissions for variant NM_000211.4(ITGB2):c.381C>T (p.Ile127=) (rs483352812)

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Total submissions: 2
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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 RCV000087117 SCV000119978 non-pathogenic Leukocyte adhesion deficiency type 1 no assertion criteria provided not provided Converted during submission to Benign.
Invitae RCV000087117 SCV000758105 likely benign Leukocyte adhesion deficiency type 1 2017-08-17 criteria provided, single submitter clinical testing

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