ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys)

dbSNP: rs1555985554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000505215 SCV000599256 likely pathogenic DYRK1A-related intellectual disability syndrome 2016-02-16 criteria provided, single submitter clinical testing

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