ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1641T>C (p.Asn547=) (rs143782040)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618913 SCV000735904 likely benign Cardiovascular phenotype 2016-04-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771252 SCV000903354 benign Cardiomyopathy 2018-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000155805 SCV000171017 benign not specified 2014-04-27 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.
Invitae RCV000226692 SCV000288596 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-01-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155805 SCV000205516 benign not specified 2014-10-02 criteria provided, single submitter clinical testing p.Asn547Asn in exon 7 of PKP2: This variant is not expected to have clinical sig nificance because it has been identified in 1.0% (6/572) of East Asian chromosom es by the 1000 Genomes Project (dbSNP rs143782040).

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