ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.406G>A (p.Val136Met) (rs567795321)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431859 SCV000518059 likely benign not specified 2016-09-14 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.
Invitae RCV000640027 SCV000761614 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-01-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769396 SCV000900788 likely benign Cardiomyopathy 2016-10-07 criteria provided, single submitter clinical testing
Color RCV000769396 SCV000911341 benign Cardiomyopathy 2018-07-15 criteria provided, single submitter clinical testing

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