ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1509G>A (p.Ser503=)

gnomAD frequency: 0.00004  dbSNP: rs763907769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195069 SCV000247234 uncertain significance not specified 2014-12-01 criteria provided, single submitter clinical testing
Invitae RCV001457821 SCV001661627 likely benign DYRK1A-related intellectual disability syndrome 2020-07-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884386 SCV004703425 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing DYRK1A: BP4, BP7

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