ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) (rs151264959)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172577 SCV000054789 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154800 SCV000204480 likely benign not specified 2016-04-29 criteria provided, single submitter clinical testing p.Asp829Asn in exon 12 of PKP2: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (54/10406) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs151264959).
GeneDx RCV000154800 SCV000236171 likely benign not specified 2018-02-22 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.
Invitae RCV001082309 SCV000557335 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000771836 SCV000904549 likely benign Cardiomyopathy 2018-04-28 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256701 SCV001433104 likely benign Dilated cardiomyopathy 1A 2019-12-04 criteria provided, single submitter clinical testing

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