Submissions for variant NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp)

gnomAD frequency: 0.00326  dbSNP: rs200575795

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153737	SCV000331970	benign	not specified	2015-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000153737	SCV000514143	benign	not specified	2018-02-01	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514446	SCV000610910	likely benign	not provided	2017-09-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081477	SCV000650325	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	2025-02-03	criteria provided, single submitter	clinical testing
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	RCV000785607	SCV000924186	likely benign	Arrhythmogenic right ventricular dysplasia 1		criteria provided, single submitter	research
Athena Diagnostics	RCV000153737	SCV001475297	benign	not specified	2020-03-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514446	SCV004163519	benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	PLEC: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000514446	SCV005222320	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514446	SCV001739773	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514446	SCV001798422	likely benign	not provided		no assertion criteria provided	clinical testing