ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1412GAG[1] (p.Gly472del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989232 SCV004805791 uncertain significance Combined immunodeficiency due to LRBA deficiency 2024-03-29 criteria provided, single submitter clinical testing

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