ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) (rs138661755)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000260271 SCV000470783 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502307 SCV000597883 likely benign not specified 2016-12-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710110 SCV000616268 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Invitae RCV000710110 SCV000755430 benign not provided 2019-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716308 SCV000847148 likely benign History of neurodevelopmental disorder 2016-08-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000502307 SCV000863269 benign not specified 2018-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000710110 SCV000969102 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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.