ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp)

dbSNP: rs140854076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082293 SCV000114244 uncertain significance not provided 2013-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085781 SCV000650855 benign X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000082293 SCV001871023 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818252 SCV002066136 benign not specified 2021-05-26 criteria provided, single submitter clinical testing

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