ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) (rs797044523)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622723 SCV000741868 pathogenic Inborn genetic diseases 2016-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
UCLA Clinical Genomics Center, UCLA RCV000190482 SCV000206790 pathogenic Mental retardation, autosomal dominant 7 2014-09-15 criteria provided, single submitter clinical testing

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