ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.114G>C (p.Ser38=)

dbSNP: rs2295197
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
GeneDx RCV000950701 SCV000717825 benign not provided 2019-03-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613715 SCV000967119 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser9Ser in exon 2 of FAM65B: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2.47% (193/7808) of E ast Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs2295197).
Invitae RCV000950701 SCV001097030 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000950701 SCV001145272 benign not provided 2019-08-05 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.