ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs)

dbSNP: rs1555990958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500665 SCV000594477 likely pathogenic DYRK1A-related intellectual disability syndrome 2016-10-13 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265304 SCV001443421 likely pathogenic Complex neurodevelopmental disorder 2018-11-30 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-11-30 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-10-14 by GTR ID of laboratory name 1238. The reporting laboratory might also submit to ClinVar.

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