ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg)

dbSNP: rs1569380375
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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 RCV000770999 SCV000902439 likely pathogenic DYRK1A-related intellectual disability syndrome criteria provided, single submitter clinical testing

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