ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4338A>G (p.Leu1446=)

gnomAD frequency: 0.00008  dbSNP: rs201059532
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728253 SCV000855801 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing
Invitae RCV001088616 SCV001086177 likely benign Combined immunodeficiency due to LRBA deficiency 2023-04-22 criteria provided, single submitter clinical testing

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