ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.246G>A (p.Pro82=)

gnomAD frequency: 0.00001  dbSNP: rs376098518
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607308 SCV000724193 likely benign not specified 2017-11-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000983843 SCV001131877 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-12-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184788 SCV001350857 benign Cardiomyopathy 2019-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450915 SCV002736223 benign Cardiovascular phenotype 2021-09-21 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.
All of Us Research Program, National Institutes of Health RCV000983843 SCV004841484 benign Arrhythmogenic right ventricular dysplasia 5 2023-11-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000607308 SCV001921676 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723940 SCV001954180 likely benign not provided no assertion criteria provided clinical testing

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