ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1354_1357del (p.Asp452fs)

dbSNP: rs2053566124
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253550 SCV001429325 pathogenic DYRK1A-related intellectual disability syndrome 2019-03-01 criteria provided, single submitter clinical testing

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