ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=)

gnomAD frequency: 0.00015  dbSNP: rs141442145
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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 RCV000884292 SCV001027660 benign Combined immunodeficiency due to LRBA deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000884292 SCV004562455 likely benign Combined immunodeficiency due to LRBA deficiency 2023-08-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716627 SCV005305487 benign not provided criteria provided, single submitter not provided

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