ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.434del (p.Lys145fs)

dbSNP: rs797044521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000190480 SCV000206788 pathogenic DYRK1A-related intellectual disability syndrome 2014-09-15 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265238 SCV001443352 pathogenic Complex neurodevelopmental disorder 2018-04-06 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-04-06 and interpreted as Pathogenic. Variant was initially reported on 2012-11-30 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar.

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