ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.381C>T (p.Ile127=)

gnomAD frequency: 0.00007  dbSNP: rs483352812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000087117 SCV000758105 likely benign Leukocyte adhesion deficiency 1 2023-12-22 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000087117 SCV000119978 non-pathogenic Leukocyte adhesion deficiency 1 no assertion criteria provided not provided Converted during submission to Benign.

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