ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=)

dbSNP: rs1564538186
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001398080 SCV001599846 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001398080 SCV004701879 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PCDH15: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001398080 SCV005220761 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001277672 SCV001464636 likely benign Usher syndrome type 1F 2020-10-28 no assertion criteria provided 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.