ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del)

dbSNP: rs2148721833
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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 RCV001843741 SCV002102876 likely pathogenic Intellectual disability, X-linked 19 2021-12-09 criteria provided, single submitter clinical testing

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