ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.489+2T>C

dbSNP: rs2052613493
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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 RCV001266728 SCV001444905 pathogenic Inborn genetic diseases 2019-11-20 criteria provided, single submitter clinical testing
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003120519 SCV003798984 pathogenic DYRK1A-related intellectual disability syndrome 2023-02-07 criteria provided, single submitter clinical testing The variant has been reported as c.516+2T>C in an affected male. PMID: 25707398

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