ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4713G>A (p.Glu1571=)

gnomAD frequency: 0.00493  dbSNP: rs75761402
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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 RCV000650443 SCV000772288 benign Combined immunodeficiency due to LRBA deficiency 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716605 SCV005305481 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003905759 SCV004719873 benign LRBA-related disorder 2019-06-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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