ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1362C>T (p.Pro454=)

gnomAD frequency: 0.00003  dbSNP: rs753907638
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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 RCV001399389 SCV001601179 likely benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2023-08-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540260 SCV004781608 likely benign STAT1-related disorder 2019-08-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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