ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.195C>T (p.Ala65=) (rs397517014)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617958 SCV000737630 likely benign Cardiovascular phenotype 2016-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000776295 SCV000911589 likely benign Cardiomyopathy 2018-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000038192 SCV000171019 benign not specified 2014-03-22 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000560794 SCV000743463 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000560794 SCV000638876 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-07-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038192 SCV000061859 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing p.Ala65Ala in exon 1 of PKP2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 14/52344 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs397517014).

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