Submissions for variant NM_201384.3(PLEC):c.10986C>T (p.Thr3662=)

gnomAD frequency: 0.00977  dbSNP: rs35134741

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117944	SCV000304302	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000117944	SCV000522852	benign	not specified	2016-05-20	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	RCV000576155	SCV000677073	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	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000117944	SCV001879650	benign	not specified	2021-04-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003436931	SCV004163443	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7, BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000117944	SCV000152223	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.