ClinVar Miner

Submissions for variant NM_000445.4(PLEC):c.5557C>T (p.Arg1853Trp) (rs200575795)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000785607 SCV000924186 likely benign Arrhythmogenic right ventricular dysplasia, familial 1 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514446 SCV000610910 likely benign not provided 2017-09-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153737 SCV000331970 benign not specified 2015-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000153737 SCV000514143 benign not specified 2018-02-01 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.
Invitae RCV000538513 SCV000650325 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 2018-01-11 criteria provided, single submitter clinical testing

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