ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2472C>T (p.Thr824=)

gnomAD frequency: 0.00163  dbSNP: rs149235577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909019 SCV001053806 benign Combined immunodeficiency due to LRBA deficiency 2024-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818813 SCV002064857 likely benign not specified 2021-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895535 SCV004718978 likely benign LRBA-related disorder 2019-10-28 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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