ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2886C>T (p.Ser962=)

gnomAD frequency: 0.00604  dbSNP: rs34761462
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) RCV000153479 SCV000202989 benign not specified 2014-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000153479 SCV000250590 benign not specified 2014-09-22 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.
Invitae RCV003764940 SCV000288797 benign FG syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618419 SCV000738387 benign Cardiovascular phenotype 2015-08-25 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
Ambry Genetics RCV000719189 SCV000850055 benign History of neurodevelopmental disorder 2015-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and 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.