Submissions for variant NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)

gnomAD frequency: 0.01077  dbSNP: rs113449357

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000039394	SCV000051602	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039394	SCV000063078	benign	not specified	2012-04-17	criteria provided, single submitter	clinical testing	Arg312Trp in Exon 11 of TMEM43: This variant is not expected to have clinical si gnificance because it has been identified in 1.3% (93/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs113449357).
GeneDx	RCV001528963	SCV000168985	benign	not provided	2018-12-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23812740, 25333069, 23161701, 27153395, 26332594, 31402444, 32880476)
Invitae	RCV000756785	SCV000290722	benign	Arrhythmogenic right ventricular dysplasia 5	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039394	SCV000314289	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243225	SCV000318348	benign	Cardiovascular phenotype	2015-04-06	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528963	SCV000884695	benign	not provided	2023-10-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000030555	SCV000900532	likely benign	Cardiomyopathy	2017-08-17	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000030555	SCV000902668	benign	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000336793	SCV000987339	likely benign	Arrhythmogenic right ventricular cardiomyopathy		criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039394	SCV002071008	benign	not specified	2017-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528963	SCV002496786	benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	TMEM43: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002490427	SCV002803035	benign	Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3	2021-07-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030555	SCV000053226	benign	Cardiomyopathy	2015-04-09	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528963	SCV001741622	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039394	SCV001925287	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528963	SCV001928239	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528963	SCV001954297	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039394	SCV001975648	benign	not specified		no assertion criteria provided	clinical testing