Submissions for variant NM_201384.3(PLEC):c.11089C>T (p.Leu3697=)

gnomAD frequency: 0.03808  dbSNP: rs17062686

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117945	SCV000269652	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Leu3834Leu in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 4.9% (408/8274) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17062686).
PreventionGenetics, part of Exact Sciences	RCV000117945	SCV000304303	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000117945	SCV000514161	benign	not specified	2016-02-15	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	RCV000576267	SCV000677072	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	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712714	SCV000843236	benign	not provided	2018-06-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117945	SCV000152224	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.
Clinical Genetics, Academic Medical Center	RCV000117945	SCV002034421	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000117945	SCV002035634	benign	not specified		no assertion criteria provided	clinical testing