ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile)

dbSNP: rs797044524
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000190483 SCV000206791 likely pathogenic DYRK1A-related intellectual disability syndrome 2014-09-15 criteria provided, single submitter clinical testing

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