ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1286_1298+6dup (rs760249644)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188474 SCV000242088 likely benign not specified 2017-10-23 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 RCV000188474 SCV000596485 likely benign not specified 2019-03-18 criteria provided, single submitter clinical testing
Invitae RCV000528550 SCV000660389 likely benign Early infantile epileptic encephalopathy 12 2019-12-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188474 SCV000855682 likely benign not specified 2017-07-27 criteria provided, single submitter clinical testing

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