Submissions for variant NM_024334.3(TMEM43):c.222C>T (p.Pro74=)

gnomAD frequency: 0.00841  dbSNP: rs34099410

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039380	SCV000063064	benign	not specified	2008-12-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039380	SCV000153044	benign	not specified	2015-02-10	criteria provided, single submitter	clinical testing
Invitae	RCV000204535	SCV000261412	benign	Arrhythmogenic right ventricular dysplasia 5	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039380	SCV000314285	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000241696	SCV000319069	benign	Cardiovascular phenotype	2015-05-13	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	RCV000769154	SCV000900528	benign	Cardiomyopathy	2015-10-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769154	SCV000910607	benign	Cardiomyopathy	2018-03-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529532	SCV001157054	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001529532	SCV001938107	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529532	SCV002544769	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TMEM43: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002490538	SCV002795075	likely benign	Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3	2021-10-05	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000204535	SCV004841480	benign	Arrhythmogenic right ventricular dysplasia 5	2024-02-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529532	SCV001743124	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039380	SCV001921070	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039380	SCV001932449	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039380	SCV001958015	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039380	SCV001971411	benign	not specified		no assertion criteria provided	clinical testing