ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.795G>T (p.Gly265=) (rs375268778)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217593 SCV000270739 likely benign not specified 2015-12-04 criteria provided, single submitter clinical testing p.Gly265Gly in exon 03 of PKP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 7/66600 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs375268778).
GeneDx RCV000217593 SCV000534514 likely benign not specified 2016-12-01 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 RCV000526769 SCV000638908 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-05-16 criteria provided, single submitter clinical testing
Color RCV000777825 SCV000913822 likely benign Cardiomyopathy 2018-10-18 criteria provided, single submitter clinical testing

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