ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.781-13G>T

gnomAD frequency: 0.00001  dbSNP: rs202207425
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424809 SCV000525263 likely benign not specified 2016-03-01 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.
Color Diagnostics, LLC DBA Color Health RCV001188899 SCV001356074 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065085 SCV002433388 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-11-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002065085 SCV004815263 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-12-13 criteria provided, single submitter clinical testing

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