Submissions for variant NM_000117.3(EMD):c.144C>T (p.Leu48=)

gnomAD frequency: 0.00315  dbSNP: rs200537612

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035104	SCV000058744	benign	not specified	2015-03-13	criteria provided, single submitter	clinical testing	p.Leu48Leu in exon 2 of EMD: This variant is not expected to have clinical sign ificance because it has been identified in 1.2% (76/6464) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs200537612).
GeneDx	RCV000035104	SCV000168326	benign	not specified	2013-04-30	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.
Eurofins Ntd Llc (ga)	RCV000035104	SCV000227021	benign	not specified	2014-09-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461030	SCV000560794	benign	X-linked Emery-Dreifuss muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617921	SCV000736502	likely benign	Cardiovascular phenotype	2016-01-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770586	SCV000902035	uncertain significance	Cardiomyopathy	2015-09-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035104	SCV001362336	likely benign	not specified	2019-06-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000461030	SCV002049986	benign	X-linked Emery-Dreifuss muscular dystrophy	2021-05-22	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035104	SCV001921843	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035104	SCV001975261	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003904897	SCV004723093	benign	EMD-related disorder	2019-07-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).