ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter)

dbSNP: rs1554120978
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000590939 SCV000700155 pathogenic Intellectual disability, autosomal dominant 5 2016-12-08 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265351 SCV001443470 likely pathogenic Complex neurodevelopmental disorder 2018-05-04 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-05-04 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-06-30 by GTR ID of laboratory name 320029. The reporting laboratory might also submit to ClinVar.

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.