ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1126+9C>T (rs3739202)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127487 SCV000171062 benign not specified 2014-05-21 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 RCV000147344 SCV000194717 uncertain significance Early infantile epileptic encephalopathy 10 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000648438 SCV000770258 benign Early infantile epileptic encephalopathy 12 2017-09-09 criteria provided, single submitter clinical testing

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