ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) (rs3739206)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147349 SCV000171067 benign not specified 2013-05-28 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 RCV000147349 SCV000194724 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147349 SCV000226495 benign not specified 2015-05-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314798 SCV000414336 likely benign Epileptic encephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458308 SCV000560519 benign Early infantile epileptic encephalopathy 12 2017-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716374 SCV000847214 benign History of neurodevelopmental disorder 2017-02-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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