ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter)

dbSNP: rs2063213305
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264738 SCV001442969 pathogenic Intellectual disability, X-linked 99, syndromic, female-restricted 2020-06-10 no assertion criteria provided clinical testing

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