ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.378C>T (p.Ile126=)

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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 RCV002775486 SCV003028421 likely benign Neutrophil immunodeficiency syndrome 2022-08-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943498 SCV004761401 likely benign RAC2-related disorder 2024-01-05 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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