ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.634-16C>T

gnomAD frequency: 0.01475  dbSNP: rs45479293
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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 RCV001511822 SCV001719128 benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709043 SCV005244387 benign not provided criteria provided, single submitter not provided

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