ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.318C>A (p.Tyr106Ter)

dbSNP: rs2077018821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001788991 SCV002030285 uncertain significance X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2017-08-23 criteria provided, single submitter clinical testing

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