ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1430G>A (p.Gly477Asp) (rs1555991030)

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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 RCV000627052 SCV000747759 uncertain significance Intellectual disability syndrome due to a DYRK1A point mutation 2017-11-20 criteria provided, single submitter clinical testing This de novo variant in DYRK1A was identified in a young male patient with ASD, learning disorder and macrocephaly

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