Submissions for variant NM_024334.3(TMEM43):c.864C>T (p.His288=)

gnomAD frequency: 0.00014  dbSNP: rs377585035

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000619970	SCV000738046	likely benign	Cardiovascular phenotype	2017-06-02	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000866535	SCV001007646	likely benign	Arrhythmogenic right ventricular dysplasia 5	2024-12-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001180593	SCV001345552	likely benign	Cardiomyopathy	2018-11-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001194113	SCV001363399	benign	not specified	2019-11-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001702820	SCV002765888	likely benign	not provided	2021-06-22	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
All of Us Research Program, National Institutes of Health	RCV000866535	SCV004841573	likely benign	Arrhythmogenic right ventricular dysplasia 5	2023-12-18	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001194113	SCV001922530	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702820	SCV001928244	likely benign	not provided		no assertion criteria provided	clinical testing