ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val) (rs1555984343)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000503079 SCV000598121 pathogenic Mental retardation, autosomal dominant 7 2017-02-06 criteria provided, single submitter clinical testing This pathogenic variant was identified in a young patient with development delay, epilepsy and microcephaly, in combination with another variant in CPA6 (VUS).

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