ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=)

gnomAD frequency: 0.00050  dbSNP: rs113110833
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425533 SCV000524842 benign not provided 2020-03-19 criteria provided, single submitter clinical testing
Invitae RCV000547376 SCV000651256 benign DYRK1A-related intellectual disability syndrome 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318441 SCV000849740 likely benign Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003897885 SCV004718271 likely benign DYRK1A-related condition 2019-06-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.