ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.1773A>C (p.Leu591Phe)

gnomAD frequency: 0.00396  dbSNP: rs143785002
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514997 SCV000611034 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000514997 SCV000718716 benign not provided 2019-07-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600676 SCV000967111 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Leu612Phe in exon 14 of FAM65B: This variant is not expected to have clinical significance because it has been identified in 1.57% (151/9612) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs143785002).
Invitae RCV000514997 SCV001027986 benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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.