ClinVar Miner

Submissions for variant NM_000360.4(TH):c.91-828C>T

gnomAD frequency: 0.00011  dbSNP: rs764689284
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001273891 SCV001002509 likely benign Autosomal recessive DOPA responsive dystonia 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424383 SCV004128968 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TH: BP4, BP7
Natera, Inc. RCV001273891 SCV001457478 benign Autosomal recessive DOPA responsive dystonia 2020-06-02 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.