Submissions for variant NM_201384.3(PLEC):c.3757-9A>G

gnomAD frequency: 0.14687  dbSNP: rs57461687

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078863	SCV000110723	benign	not specified	2013-05-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078863	SCV000304329	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000540463	SCV000650259	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	RCV000712737	SCV000843259	benign	not provided	2018-06-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000712737	SCV001886813	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078863	SCV000152257	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	RCV000078863	SCV002034689	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000712737	SCV002036128	likely benign	not provided		no assertion criteria provided	clinical testing