Submissions for variant NM_000445.5(PLEC):c.6243C>T (p.His2081=) (rs563719398)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000177620	SCV000248531	uncertain significance	not specified	2015-03-09	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000177620	SCV000332566	benign	not specified	2016-02-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000177620	SCV000531049	likely benign	not specified	2016-08-31	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.
Athena Diagnostics Inc	RCV000177620	SCV000614647	benign	not specified	2016-12-28	criteria provided, single submitter	clinical testing
Invitae	RCV000528561	SCV000650358	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	2017-09-28	criteria provided, single submitter	clinical testing