ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1497G>A (p.Leu499=) (rs142199280)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212875 SCV000113438 likely benign not specified 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000212875 SCV000171070 benign not specified 2013-02-20 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 RCV000212875 SCV000194727 likely benign not specified 2019-12-13 criteria provided, single submitter clinical testing
Invitae RCV001082419 SCV000289722 benign Early infantile epileptic encephalopathy 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716408 SCV000847248 likely benign History of neurodevelopmental disorder 2018-12-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Insufficient evidence;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000230239 SCV001145117 likely benign not provided 2019-07-08 criteria provided, single submitter clinical testing

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