ClinVar Miner

Submissions for variant NM_003373.4(VCL):c.2388G>A (p.Pro796=) (rs767809)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038812 SCV000062490 benign not specified 2011-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000038812 SCV000169780 benign not specified 2012-11-01 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.
PreventionGenetics,PreventionGenetics RCV000038812 SCV000312011 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251660 SCV000317597 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365455 SCV000364936 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Clinical Genetics, Erasmus University Medical Center RCV000984707 SCV000994824 uncertain significance Hirschsprung disease 2019-05-16 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.