ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=)

gnomAD frequency: 0.00006  dbSNP: rs746401908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000661 SCV001157688 likely benign Combined immunodeficiency due to LRBA deficiency 2018-11-20 criteria provided, single submitter clinical testing
Invitae RCV001000661 SCV001685212 likely benign Combined immunodeficiency due to LRBA deficiency 2021-12-08 criteria provided, single submitter clinical testing

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