ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2363C>T (p.Ala788Val)

dbSNP: rs1299165203
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
GeneDx RCV001751531 SCV001987950 uncertain significance not provided 2019-12-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect - Simons Searchlight RCV001265480 SCV001443617 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2018-06-08 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-06-08 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2016-11-22 by GTR ID of laboratory name 26957. 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.