ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1644+18T>C

gnomAD frequency: 0.00001  dbSNP: rs755097100
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432080 SCV000530250 likely benign not specified 2017-03-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002059828 SCV002433724 likely benign DYRK1A-related intellectual disability syndrome 2023-02-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437195 SCV004153649 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing DYRK1A: BP4, BP7

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.