ClinVar Miner

Submissions for variant NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)

dbSNP: rs1553738686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000504586 SCV004171234 likely pathogenic Intellectual disability, autosomal dominant 47 2023-11-30 criteria provided, single submitter clinical testing
OMIM RCV000504586 SCV000598639 pathogenic Intellectual disability, autosomal dominant 47 2017-08-31 no assertion criteria provided literature only
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000506734 SCV000605725 likely pathogenic STAG1-related disorder 2016-12-20 no assertion criteria provided clinical testing

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