ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1127-8C>T (rs3739203)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081502 SCV000113433 benign not specified 2012-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000081502 SCV000171063 benign not specified 2012-05-11 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 RCV000081502 SCV000194718 benign not specified 2015-12-11 criteria provided, single submitter clinical testing
Invitae RCV000710179 SCV000289720 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323099 SCV000414345 uncertain significance Epileptic encephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710179 SCV000614681 benign not provided 2018-01-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000606811 SCV000743933 benign Early infantile epileptic encephalopathy 10 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606811 SCV000745393 benign Early infantile epileptic encephalopathy 10 2017-05-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710179 SCV001151991 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606811 SCV000733905 likely benign Early infantile epileptic encephalopathy 10 no assertion criteria provided clinical testing

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