ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1215C>A (p.Ile405=)

gnomAD frequency: 0.00003  dbSNP: rs145655011
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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 RCV001397747 SCV001599507 likely benign Leukocyte adhesion deficiency 1 2021-01-02 criteria provided, single submitter clinical testing

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