ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17162G>A (p.Arg5721Gln)

gnomAD frequency: 0.00003  dbSNP: rs767936566
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
Eurofins Ntd Llc (ga) RCV000319761 SCV000340526 uncertain significance not provided 2016-03-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000319761 SCV001714204 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000319761 SCV003826451 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing

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.