ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.304-2A>G

dbSNP: rs387907242
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
MGZ Medical Genetics Center RCV000029244 SCV002579068 pathogenic Neuronopathy, distal hereditary motor, type 5B 2022-04-01 criteria provided, single submitter clinical testing
OMIM RCV000029244 SCV000051890 pathogenic Neuronopathy, distal hereditary motor, type 5B 2012-07-13 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789557 SCV000928913 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.