ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.696T>G (p.Ser232=)

dbSNP: rs534160840
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
Genetic Services Laboratory, University of Chicago RCV000192544 SCV000246894 uncertain significance not specified 2015-05-06 criteria provided, single submitter clinical testing
Invitae RCV000976674 SCV001124581 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000976674 SCV004140251 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CC2D1A: BP4, BP7

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.