ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.924G>A (p.Ala308=)

gnomAD frequency: 0.00006  dbSNP: rs138698694
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916023 SCV001061253 likely benign Leukocyte adhesion deficiency 1 2023-09-14 criteria provided, single submitter clinical testing

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