ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=) (rs113110833)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425533 SCV000524842 likely benign not specified 2016-09-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000547376 SCV000651256 benign Mental retardation, autosomal dominant 7 2017-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718876 SCV000849740 likely benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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