ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.1233C>T (p.Ser411=)

gnomAD frequency: 0.00006  dbSNP: rs201671985
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
GeneDx RCV001708883 SCV001936242 benign not provided 2020-03-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821959 SCV002067691 likely benign not specified 2018-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539721 SCV003290176 benign Schuurs-Hoeijmakers syndrome 2024-08-20 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.