ClinVar Miner

Submissions for variant NM_005612.5(REST):c.2203C>T (p.Pro735Ser)

gnomAD frequency: 0.00204  dbSNP: rs141166149
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001515494 SCV001723581 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001515494 SCV002000800 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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.