Submissions for variant NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)

gnomAD frequency: 0.00629  dbSNP: rs11924644

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000039396	SCV000051603	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039396	SCV000063080	benign	not specified	2012-04-10	criteria provided, single submitter	clinical testing	2.1% (n=79 alleles) in AA (ESP)
Invitae	RCV001082183	SCV000290723	benign	Arrhythmogenic right ventricular dysplasia 5	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248723	SCV000318807	benign	Cardiovascular phenotype	2015-10-20	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769158	SCV000900533	benign	Cardiomyopathy	2016-10-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769158	SCV000913761	benign	Cardiomyopathy	2018-03-19	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845304	SCV000987344	likely benign	not provided		criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852957	SCV000995706	benign	Sudden cardiac arrest	2019-03-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000845304	SCV001940781	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039396	SCV001919998	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000845304	SCV001957555	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039396	SCV001964298	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000769158	SCV003802997	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing