ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)

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
Ambry Genetics RCV001266444 SCV001444619 pathogenic Inborn genetic diseases 2017-11-08 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265255 SCV001443371 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-09-28 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-28 and interpreted as Pathogenic. Variant was initially reported on 2017-12-06 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar.
GeneDx RCV001575300 SCV001802263 pathogenic not provided 2020-10-08 no assertion criteria provided clinical testing Frameshift 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); Has not been previously published as pathogenic or benign to our knowledge

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.