ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.504C>T (p.Phe168=)

gnomAD frequency: 0.00014  dbSNP: rs143576179
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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 RCV000978093 SCV001126017 benign Leukocyte adhesion deficiency 1 2024-12-07 criteria provided, single submitter clinical testing

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