ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2229T>G (p.Leu743=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003859822 SCV004663115 likely benign Arrhythmogenic right ventricular dysplasia 9 2022-12-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006136 SCV004821550 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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