ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2133C>T (p.Ala711=) (rs529442984)

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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 RCV000620698 SCV000735642 likely benign Cardiovascular phenotype 2017-07-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777858 SCV000913861 benign Cardiomyopathy 2018-10-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000557801 SCV000733160 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 no assertion criteria provided clinical testing
GeneDx RCV000156730 SCV000534291 likely benign not specified 2017-12-11 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 RCV000557801 SCV000638882 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-02-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156730 SCV000206451 likely benign not specified 2014-08-07 criteria provided, single submitter clinical testing Ala711Ala in exon 10 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.

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