ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs) (rs1057519628)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000417095 SCV000494645 pathogenic Mental retardation, autosomal dominant 7 2015-10-23 criteria provided, single submitter clinical testing Loss of function mutation of DYRK1A gene cause mental retardation with autosomal dominant microcephaly. This variant has been reported to be present in one patient with similar phenotype (PMID: 23160955)
OMIM RCV000417095 SCV000056592 pathogenic Mental retardation, autosomal dominant 7 2012-12-21 no assertion criteria provided literature only

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