ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.7085A>G (p.Asn2362Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004674034 SCV005093808 uncertain significance Combined immunodeficiency due to LRBA deficiency 2024-08-05 criteria provided, single submitter clinical testing

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