ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1674+13A>C

gnomAD frequency: 0.00001  dbSNP: rs768698663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612707 SCV000724975 likely benign not specified 2017-11-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003617852 SCV004521693 likely benign Arrhythmogenic right ventricular dysplasia 9 2022-11-28 criteria provided, single submitter clinical testing

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