ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.2514C>A (p.Pro838=)

gnomAD frequency: 0.00082  dbSNP: rs147497014
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
Eurofins Ntd Llc (ga) RCV000723847 SCV000202254 uncertain significance not provided 2013-11-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192633 SCV000246788 likely benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Invitae RCV001082929 SCV001002496 benign Oculofaciocardiodental syndrome 2023-06-10 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.