ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val)

gnomAD frequency: 0.00462  dbSNP: rs35977354
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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 RCV000508237 SCV000604133 uncertain significance not specified 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV000948686 SCV001094907 benign Combined immunodeficiency due to LRBA deficiency 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000508237 SCV002064854 likely benign not specified 2020-09-08 criteria provided, single submitter clinical testing

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