ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.2190G>A (p.Glu730=)

gnomAD frequency: 0.00004  dbSNP: rs748388742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816282 SCV002063985 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074249 SCV002322821 likely benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001816282 SCV005255951 likely benign not provided criteria provided, single submitter not provided

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