Submissions for variant NM_024334.3(TMEM43):c.1140C>T (p.Ala380=)

gnomAD frequency: 0.00002  dbSNP: rs1055842863

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001185771	SCV001352049	likely benign	Cardiomyopathy	2019-05-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001435777	SCV001638603	likely benign	Arrhythmogenic right ventricular dysplasia 5	2023-11-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001557560	SCV001779338	likely benign	not provided	2018-10-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002327445	SCV002618517	likely benign	Cardiovascular phenotype	2020-06-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
All of Us Research Program, National Institutes of Health	RCV001435777	SCV004841615	likely benign	Arrhythmogenic right ventricular dysplasia 5	2023-12-13	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001557560	SCV001957779	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001557560	SCV001964585	likely benign	not provided		no assertion criteria provided	clinical testing