ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.783G>A (p.Pro261=) (rs145307985)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147368 SCV000171054 benign not specified 2013-01-29 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 RCV000147368 SCV000194745 likely benign not specified 2014-04-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147368 SCV000203320 benign not specified 2014-01-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147368 SCV000311776 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374135 SCV000414349 likely benign Epileptic encephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468396 SCV000560529 benign Early infantile epileptic encephalopathy 12 2018-01-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625158 SCV000743935 likely benign Early infantile epileptic encephalopathy 10 2017-06-05 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625158 SCV000745396 likely benign Early infantile epileptic encephalopathy 10 2015-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716138 SCV000846974 likely benign History of neurodevelopmental disorder 2016-06-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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