ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.69A>C (p.Pro23=)

dbSNP: rs767619018
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536762 SCV001008813 likely benign Arrhythmogenic right ventricular dysplasia 5 2021-12-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002536762 SCV004822173 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597912 SCV005092424 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TMEM43: BP4, BP7

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