ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.927C>T (p.Ala309=) (rs200152448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437076 SCV000516608 benign not specified 2015-04-20 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.
Color RCV000772008 SCV000904964 likely benign Cardiomyopathy 2018-06-25 criteria provided, single submitter clinical testing

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