ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1248C>G (p.Gly416=)

gnomAD frequency: 0.00024  dbSNP: rs140787216
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513021 SCV000609016 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001450238 SCV001653840 likely benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2024-01-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000513021 SCV002034055 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000513021 SCV002037080 likely benign not provided no assertion criteria provided clinical testing

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