ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.279+2T>C

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
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223522 SCV003919015 pathogenic Neuronopathy, distal hereditary motor, type 7B 2023-04-20 criteria provided, single submitter research
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447338 SCV004174532 uncertain significance Perry syndrome 2016-01-06 no assertion criteria provided literature only

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.