ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.39C>T (p.Thr13=)

gnomAD frequency: 0.00001  dbSNP: rs1232485204
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002191995 SCV002346027 likely benign X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2024-01-19 criteria provided, single submitter clinical testing

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