ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*1295C>T

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
Kariminejad - Najmabadi Pathology & Genetics Center RCV001007467 SCV001167082 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 4F criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789544 SCV000928900 uncertain significance Charcot-Marie-Tooth disease 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.