ClinVar Miner

Submissions for variant NM_018993.4(RIN2):c.965G>A (p.Ser322Asn)

gnomAD frequency: 0.00538  dbSNP: rs199693970
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501833 SCV000596769 likely benign not specified 2015-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000861911 SCV000714772 benign not provided 2019-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861911 SCV001002328 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000861911 SCV005207426 likely 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.