ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.329-5G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002947439 SCV003266290 likely benign Leukocyte adhesion deficiency 1 2023-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943596 SCV004756974 likely benign ITGB2-related disorder 2020-10-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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