Submissions for variant NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)

gnomAD frequency: 0.29043  dbSNP: rs4685076

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000039387	SCV000051599	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039387	SCV000063071	benign	not specified	2008-11-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000039387	SCV000114143	benign	not specified	2013-06-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039387	SCV000153045	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000039387	SCV000168990	benign	not specified	2011-08-08	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.
PreventionGenetics, part of Exact Sciences	RCV000039387	SCV000314286	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000242086	SCV000317552	benign	Cardiovascular phenotype	2015-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Color Diagnostics, LLC DBA Color Health	RCV000771046	SCV000902549	benign	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000039387	SCV001433067	benign	not specified	2020-05-31	criteria provided, single submitter	clinical testing
Invitae	RCV001509601	SCV001716416	benign	Arrhythmogenic right ventricular dysplasia 5	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001509601	SCV002098520	benign	Arrhythmogenic right ventricular dysplasia 5	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838543	SCV002098521	benign	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	2021-09-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039387	SCV001741855	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039387	SCV001921873	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039387	SCV001929616	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039387	SCV001956326	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039387	SCV001966015	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000771046	SCV003802994	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing