ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)

gnomAD frequency: 0.00002  dbSNP: rs750274894
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673593 SCV000798815 uncertain significance Usher syndrome type 1F 2018-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532149 SCV003441516 likely benign not provided 2023-07-17 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.