ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1379-2112A>G

gnomAD frequency: 0.00001  dbSNP: rs367657856
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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 RCV001525741 SCV001735925 likely benign Cardiomyopathy 2020-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568822 SCV003502196 likely benign Arrhythmogenic right ventricular dysplasia 9 2022-08-06 criteria provided, single submitter clinical testing

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