ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1032G>A (p.Arg344=) (rs185452809)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147343 SCV000171061 benign not specified 2013-10-02 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147343 SCV000335176 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Invitae RCV000463085 SCV000560514 benign Early infantile epileptic encephalopathy 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715051 SCV000845875 likely benign History of neurodevelopmental disorder 2016-03-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Genetic Services Laboratory, University of Chicago RCV000147343 SCV000194716 likely benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.