ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.318C>T (p.Tyr106=)

gnomAD frequency: 0.00001  dbSNP: rs778063346
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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 RCV001452173 SCV001655829 likely benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2023-11-22 criteria provided, single submitter clinical testing

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