Submissions for variant NM_000117.3(EMD):c.495G>A (p.Thr165=)

gnomAD frequency: 0.00075  dbSNP: rs151074632

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035109	SCV000058749	likely benign	not specified	2012-03-06	criteria provided, single submitter	clinical testing	Thr165Thr in exon 6 of EMD: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has been identified in 0.1% (8/5545 ) of European American chromosomes from a broad population by the NHLBI Exome Se quencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs151074632). Thr165T hr in exon 6 of EMD (rs151074632; allele frequency = 0.1%, 8/5545) **
Invitae	RCV000228467	SCV000283519	likely benign	X-linked Emery-Dreifuss muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248685	SCV000318933	likely benign	Cardiovascular phenotype	2017-09-08	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Eurofins Ntd Llc (ga)	RCV000035109	SCV000342648	likely benign	not specified	2017-08-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001705643	SCV000517429	benign	not provided	2021-03-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035109	SCV001821334	likely benign	not specified	2021-08-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003934888	SCV004764759	likely benign	EMD-related condition	2019-10-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000228467	SCV000734766	likely benign	X-linked Emery-Dreifuss muscular dystrophy		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035109	SCV001921903	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705643	SCV001927461	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705643	SCV001951576	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705643	SCV001967001	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001705643	SCV001979841	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826540	SCV002084694	likely benign	Emery-Dreifuss muscular dystrophy	2020-04-12	no assertion criteria provided	clinical testing