ClinVar Miner

Submissions for variant NM_007254.3(PNKP):c.586T>A (p.Tyr196Asn) (rs3739186)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716287 SCV000847127 benign History of neurodevelopmental disorder 2016-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513960 SCV000609537 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000147363 SCV000171051 benign not specified 2012-05-14 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 RCV000147363 SCV000194739 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402812 SCV000414352 likely benign Epileptic encephalopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471482 SCV000560518 benign Early infantile epileptic encephalopathy 12 2018-01-03 criteria provided, single submitter clinical testing

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