ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1323G>T (p.Arg441=) (rs3748278)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618592 SCV000736216 likely benign Cardiovascular phenotype 2016-02-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000604181 SCV000718648 likely benign not specified 2017-04-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000364241 SCV000378458 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000640045 SCV000761633 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-11-16 criteria provided, single submitter clinical testing

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