ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.7348G>A (p.Ala2450Thr) (rs193257576)

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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 RCV000177598 SCV000229496 benign not specified 2014-05-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177598 SCV000248533 uncertain significance not specified 2015-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000177598 SCV000524051 likely benign not specified 2018-01-30 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 RCV000540982 SCV000650402 likely 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 2017-12-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712756 SCV000843280 benign not provided 2018-03-30 criteria provided, single submitter clinical testing

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