ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1389G>T (p.Gln463His)

dbSNP: rs137852679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003430634 SCV004148307 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing STAT1: PM2, PM6, PP4:Moderate, PS4:Moderate, PP2, PS3:Supporting
OMIM RCV000009613 SCV000029831 pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2006-08-18 no assertion criteria provided literature only

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