ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.948G>A (p.Trp316Ter)

dbSNP: rs2076895533
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253584 SCV001429376 pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2019-08-06 criteria provided, single submitter clinical testing This variant was identified as hemizygous

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