Submissions for variant NM_024334.3(TMEM43):c.429G>A (p.Thr143=)

gnomAD frequency: 0.00011  dbSNP: rs201217046

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233532	SCV000290716	likely benign	Arrhythmogenic right ventricular dysplasia 5	2023-12-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000772068	SCV000905097	likely benign	Cardiomyopathy	2018-10-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001529032	SCV001835317	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001844097	SCV002103983	benign	not specified	2022-02-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002327145	SCV002630858	likely benign	Cardiovascular phenotype	2018-12-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences	RCV003939886	SCV004751902	likely benign	TMEM43-related condition	2019-07-03	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529032	SCV001741802	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001529032	SCV001922456	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529032	SCV001965474	likely benign	not provided		no assertion criteria provided	clinical testing