ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.1038T>C (p.Ile346=)

dbSNP: rs1695247267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186557 SCV001353019 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008610 SCV004841599 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-10-02 criteria provided, single submitter clinical testing

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