ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser)

gnomAD frequency: 0.00002  dbSNP: rs371958110
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
Invitae RCV001322458 SCV001513332 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-08-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003135971 SCV003818870 uncertain significance not provided 2019-10-08 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.