Submissions for variant NM_024334.3(TMEM43):c.909C>T (p.Ser303=)

gnomAD frequency: 0.02012  dbSNP: rs35100587

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039393	SCV000063077	benign	not specified	2009-02-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039393	SCV000153048	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000241757	SCV000317778	benign	Cardiovascular phenotype	2015-06-29	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.
Invitae	RCV000477225	SCV000557664	benign	Arrhythmogenic right ventricular dysplasia 5	2024-02-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771074	SCV000902606	benign	Cardiomyopathy	2018-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001650876	SCV001471735	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001650876	SCV001870617	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771074	SCV003838474	benign	Cardiomyopathy	2021-11-18	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039393	SCV001921983	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039393	SCV001929696	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039393	SCV001951927	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039393	SCV001973492	benign	not specified		no assertion criteria provided	clinical testing