ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1392C>T (p.Leu464=)

gnomAD frequency: 0.00001  dbSNP: rs761609728
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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 RCV002162919 SCV002417889 likely benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2021-10-05 criteria provided, single submitter clinical testing

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