ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.5444del (p.Thr1815fs) (rs879255407)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239101 SCV000297254 pathogenic not provided 2015-08-10 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265311 SCV001443428 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2016-09-01 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-09-01 and interpreted as Pathogenic. Variant was initially reported on 2015-08-10 by GTR ID of laboratory name 165021. The reporting laboratory might also submit to ClinVar.

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.