ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.135C>T (p.His45=)

gnomAD frequency: 0.00002  dbSNP: rs566696388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002083199 SCV002376105 likely benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711779 SCV005255956 likely benign not provided criteria provided, single submitter not provided

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