ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.468G>A (p.Pro156=)

gnomAD frequency: 0.00004  dbSNP: rs756166702
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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 RCV001187435 SCV001354251 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Invitae RCV001462066 SCV001665977 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-11-25 criteria provided, single submitter clinical testing

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