ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1032G>A (p.Arg344=) (rs185452809)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147343 SCV000171061 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147343 SCV000335176 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Invitae RCV000463085 SCV000560514 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715051 SCV000845875 likely benign History of neurodevelopmental disorder 2016-03-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Genetic Services Laboratory, University of Chicago RCV000147343 SCV000194716 likely benign not specified no assertion criteria provided clinical testing

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