ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.27C>T (p.Phe9=)

gnomAD frequency: 0.00436  dbSNP: rs75191413
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000173233 SCV000224328 benign not specified 2015-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715545 SCV000846374 likely benign History of neurodevelopmental disorder 2016-05-12 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000870876 SCV001012438 benign not provided 2021-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000870876 SCV001846576 benign not provided 2019-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000870876 SCV002545156 benign not provided 2022-04-01 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.