ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) (rs147354926)

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
GeneDx RCV000117601 SCV000250578 benign not specified 2014-11-17 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224927 SCV000280903 benign not provided 2015-06-12 criteria provided, single submitter clinical testing
Invitae RCV000224927 SCV000288801 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248678 SCV000319812 benign Cardiovascular phenotype 2015-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718173 SCV000849035 benign History of neurodevelopmental disorder 2015-07-07 criteria provided, single submitter clinical testing
ITMI RCV000117601 SCV000085505 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000117601 SCV000151830 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.