ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3012A>G (p.Ala1004=)

gnomAD frequency: 0.00005  dbSNP: rs371296941
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000898810 SCV001043038 likely benign Combined immunodeficiency due to LRBA deficiency 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975703 SCV004792892 likely benign LRBA-related condition 2019-04-02 criteria provided, single submitter 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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