ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1222-14T>G

gnomAD frequency: 0.00008  dbSNP: rs201698540
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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 RCV002200857 SCV002483863 likely benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2023-11-27 criteria provided, single submitter clinical testing

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