ClinVar Miner

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

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Total submissions: 5
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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, http://exac.broadinstitute.org; dbSNP rs201667254).

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