ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.1001-11C>T

gnomAD frequency: 0.00001  dbSNP: rs755132712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186284 SCV001352660 likely benign Cardiomyopathy 2019-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068433 SCV002389486 likely benign Arrhythmogenic right ventricular dysplasia 5 2024-05-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002068433 SCV004829772 likely benign Arrhythmogenic right ventricular dysplasia 5 2024-01-11 criteria provided, single submitter clinical testing

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