ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.1239C>G (p.Ser413Arg) (rs201667254)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174248 SCV000335011 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000174248 SCV000522684 likely benign not specified 2018-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000174248 SCV000596442 uncertain significance not specified 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV000559452 SCV000650168 benign Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000174248 SCV000711609 likely benign not specified 2016-12-14 criteria provided, single submitter clinical testing p.Ser523Arg in exon 11 of PLEC: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 0.4% (71/16504) of South Asian chromosomes by the Exome Agg regation Consortium (ExAC,; dbSNP rs201667254).

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.