ClinVar Miner

Submissions for variant NM_004230.4(S1PR2):c.558C>T (p.Tyr186=)

gnomAD frequency: 0.00009  dbSNP: rs199954220
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825231 SCV000966513 likely benign not specified 2018-05-25 criteria provided, single submitter clinical testing p.Tyr186Tyr in exon 2 of S1PR2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.17% (32/18864) o f East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs199954220).
GeneDx RCV000827268 SCV000968903 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000827268 SCV001075041 likely benign not provided 2024-08-12 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.