Submissions for variant NM_201384.3(PLEC):c.1374C>T (p.Thr458=)

gnomAD frequency: 0.01267  dbSNP: rs115081018

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117954	SCV000304313	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000117954	SCV000514133	benign	not specified	2016-03-29	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	RCV000576242	SCV000677089	benign	Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000117954	SCV001475963	benign	not specified	2020-06-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117954	SCV000152239	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.