ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs)

dbSNP: rs1601319352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995762 SCV001150094 pathogenic DYRK1A-related intellectual disability syndrome 2019-04-25 criteria provided, single submitter clinical testing

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