ClinVar Miner

Submissions for variant NM_033517.1(SHANK3):c.3893G>A (p.Arg1298Lys) (rs201483867)

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
Genetic Services Laboratory, University of Chicago RCV000500425 SCV000597046 benign not specified 2016-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718658 SCV000849522 likely benign History of neurodevelopmental disorder 2019-06-28 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)

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.