Submissions for variant NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)

gnomAD frequency: 0.00660  dbSNP: rs35924492

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000154476	SCV000051601	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154476	SCV000204145	benign	not specified	2013-08-11	criteria provided, single submitter	clinical testing	Tyr233Cys in exon 8 of TMEM43: This variant is not expected to have clinical sig nificance because it has been identified in 2.5% (111/4406) of African American chromosomes from by the NHLBI Exome Sequencing Project (http://evs.gs.washington .edu/EVS/rs35924492).
Invitae	RCV001082182	SCV000290719	benign	Arrhythmogenic right ventricular dysplasia 5	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243763	SCV000318806	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	RCV000769155	SCV000900529	benign	Cardiomyopathy	2016-10-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769155	SCV000913737	benign	Cardiomyopathy	2018-03-19	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845404	SCV000987469	benign	not provided		criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852956	SCV000995705	benign	Sudden cardiac arrest	2019-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000845404	SCV001473672	benign	not provided	2020-01-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000845404	SCV001910401	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498740	SCV002808477	benign	Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3	2021-07-30	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154476	SCV001922370	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000845404	SCV001953807	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000154476	SCV001972367	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000769155	SCV003802996	benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing