ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.918C>T (p.Pro306=) (rs368656084)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038229 SCV000061897 likely benign not specified 2009-10-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724167 SCV000229049 uncertain significance not provided 2014-09-22 criteria provided, single submitter clinical testing
Invitae RCV000228970 SCV000288611 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000038229 SCV000715195 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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