ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.-14C>A

dbSNP: rs180925565
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214266 SCV000271302 likely benign not specified 2016-11-25 criteria provided, single submitter clinical testing c.-14C>A in the 5'UTR of PRDM16: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (49/7718) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs180925565).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000214266 SCV004038545 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000214266 SCV001923025 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726052 SCV001963193 likely benign not provided 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.