Submissions for variant NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)

gnomAD frequency: 0.01433  dbSNP: rs28526657

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117977	SCV000269698	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Arg2808Gln in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it has been identified in 3.0% (131/4296) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs28526657).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224341	SCV000281448	likely benign	not provided	2015-09-29	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000117977	SCV000519978	benign	not specified	2016-07-07	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	RCV001080370	SCV000650423	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	RCV000117977	SCV001475389	benign	not specified	2020-01-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490804	SCV002802667	likely benign	Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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	2021-08-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117977	SCV000152289	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.