ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)

dbSNP: rs1876853109
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587304 SCV001814134 pathogenic not provided 2019-07-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26633542)
GenomeConnect - Simons Searchlight RCV001265310 SCV001443427 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2015-11-24 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2015-11-24 and interpreted as Pathogenic. Variant was initially reported on 2014-04-24 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.
Pediatric Department, Xiangya Hospital, Central South University RCV001265310 SCV004032209 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome no assertion criteria provided research

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.