ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1116T>C (p.Ala372=) (rs142742483)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038147 SCV000061813 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala372Ala in Exon 04 of PKP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 1.2% (45/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs142742483).
GeneDx RCV000038147 SCV000171012 benign not specified 2014-03-26 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 RCV000858276 SCV000288587 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265175 SCV000378462 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000234367 SCV000744705 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-06-28 criteria provided, single submitter clinical testing
Color RCV000771260 SCV000903373 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing

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