ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly)

dbSNP: rs886039520
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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 RCV001843755 SCV002102893 likely pathogenic Intellectual disability, autosomal dominant 15 2021-01-20 criteria provided, single submitter clinical testing

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