ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)

dbSNP: rs724159950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV000224418 SCV000281736 pathogenic Intellectual disability 2014-07-25 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000149560 SCV000196059 pathogenic Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 2014-09-09 no assertion criteria provided clinical testing

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