ClinVar Miner

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

dbSNP: rs1555984343
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Total submissions: 2
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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 DYRK1A-related intellectual disability syndrome 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268091 SCV001446739 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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