ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu)

gnomAD frequency: 0.00116  dbSNP: rs143504255
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
GeneDx RCV001559992 SCV001782321 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072122 SCV002387948 likely benign Juvenile onset Parkinson disease 19A 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002072122 SCV004049394 likely benign Juvenile onset Parkinson disease 19A 2023-04-11 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.