ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) (rs146478958)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127494 SCV000171071 benign not specified 2013-10-02 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.
Genetic Services Laboratory, University of Chicago RCV000147354 SCV000194729 uncertain significance Early infantile epileptic encephalopathy 10 2014-04-03 criteria provided, single submitter clinical testing
Invitae RCV000534993 SCV000650114 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719816 SCV000850686 likely benign History of neurodevelopmental disorder 2017-05-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000534993 SCV001145118 benign not provided 2018-11-28 criteria provided, single submitter clinical testing

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