ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1447-8C>G

gnomAD frequency: 0.00001  dbSNP: rs769967623
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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 RCV001484412 SCV001688830 likely benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-11-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434271 SCV004148306 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing STAT1: BP4, BS2

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