Submissions for variant NM_201384.3(PLEC):c.9558A>G (p.Thr3186=)

gnomAD frequency: 0.00161  dbSNP: rs201102719

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000309430	SCV000333158	uncertain significance	not provided	2015-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV001085355	SCV000650474	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	2023-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000309430	SCV000969280	likely benign	not provided	2018-05-29	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.
PreventionGenetics, part of Exact Sciences	RCV003909922	SCV004725407	likely benign	PLEC-related condition	2019-02-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).