ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1372A>G (p.Ile458Val) (rs199571473)

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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 RCV000172088 SCV000051034 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038160 SCV000061826 benign not specified 2015-12-23 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000038160 SCV000236222 benign not specified 2017-01-19 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.
Ambry Genetics RCV000617332 SCV000736894 benign Cardiovascular phenotype 2017-08-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000172088 SCV000761635 benign not provided 2019-01-14 criteria provided, single submitter clinical testing
Color RCV000771888 SCV000904650 likely benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing

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