ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.1690C>T (p.Arg564Ter) (rs1555247936)

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
Ambry Genetics RCV000622304 SCV000741611 pathogenic Inborn genetic diseases 2016-06-16 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265261 SCV001443377 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2018-10-15 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-10-15 and interpreted as Pathogenic. Variant was initially reported on 2016-02-16 by GTR ID of laboratory name 500105. The reporting laboratory might also submit to ClinVar. Inherited from a parent with suspected germline mosaicism and identified in multiple siblings. Additional phenotypic information for other sibling(s) might be available from Simons Searchlight.

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.