ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=)

gnomAD frequency: 0.00088  dbSNP: rs61753644
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555768 SCV000660133 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001591312 SCV001824433 likely benign not provided 2020-05-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001591312 SCV002585899 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing SYNJ1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001591312 SCV001930255 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001591312 SCV001967342 likely benign not provided no assertion criteria provided 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.