ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.*301T>C

gnomAD frequency: 0.93627  dbSNP: rs8078556
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
Illumina Laboratory Services, Illumina RCV000287401 SCV000403696 benign Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653581 SCV001862461 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653581 SCV005249307 benign not provided criteria provided, single submitter not provided

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.