ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs)

dbSNP: rs2053566582
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197239 SCV001367876 pathogenic DYRK1A-related intellectual disability syndrome 2019-01-08 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.

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