ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.499+19A>G

gnomAD frequency: 0.00002  dbSNP: rs1016992186
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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 RCV002076039 SCV002429895 likely benign Leukocyte adhesion deficiency 1 2022-10-04 criteria provided, single submitter clinical testing

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