ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3826-5A>G

gnomAD frequency: 0.00462  dbSNP: rs114629781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507641 SCV000604132 likely benign not specified 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV000948685 SCV001094906 benign Combined immunodeficiency due to LRBA deficiency 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000507641 SCV002064850 benign not specified 2020-09-08 criteria provided, single submitter clinical testing

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