ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6053A>G (p.Asp2018Gly)

gnomAD frequency: 0.00001  dbSNP: rs891747847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223841 SCV001396008 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-08-24 criteria provided, single submitter clinical testing
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini RCV001223841 SCV001424086 likely benign Combined immunodeficiency due to LRBA deficiency 2020-05-21 no assertion criteria provided clinical testing

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