ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) (rs28940272)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716590 SCV000847431 likely benign History of neurodevelopmental disorder 2017-07-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513475 SCV000609318 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513475 SCV000610298 likely benign not provided 2017-02-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081920 SCV000113855 benign not specified 2015-03-25 criteria provided, single submitter clinical testing
GeneDx RCV000081920 SCV000512680 likely benign not specified 2015-04-28 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.
Genetic Services Laboratory, University of Chicago RCV000081920 SCV000249424 uncertain significance not specified 2015-04-24 criteria provided, single submitter clinical testing
Invitae RCV000002955 SCV000630893 likely benign Cohen syndrome 2018-01-03 criteria provided, single submitter clinical testing
OMIM RCV000002955 SCV000023113 pathogenic Cohen syndrome 2004-07-01 no assertion criteria provided literature only

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.