ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met) (rs773725715)

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 RCV000527924 SCV000651624 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717290 SCV000848139 likely benign History of neurodevelopmental disorder 2018-01-30 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign)

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.