ClinVar Miner

Submissions for variant GRCh37/hg19 15q11.2(chr15:22750305-23226254)x3

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington RCV000790577 SCV000929929 pathogenic See cases 2018-08-14 criteria provided, single submitter clinical testing A risk factor for neurocognitive abnormalities with low penetrance and variable expressivity; Patient also had 18q21.32(57,940,764-58,095,560)x1 (Pathogenic) and 2q22.1q22.2(141,632,103-142,270,676)x1 (Likely benign)
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center RCV000738656 SCV000866992 benign not provided 2016-12-27 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.