ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) (rs201713027)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188361 SCV000224339 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000188361 SCV000241973 likely benign not specified 2018-01-24 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 RCV000188361 SCV000248451 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000188361 SCV000614421 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV001080644 SCV000640276 likely benign Early infantile epileptic encephalopathy 9 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720106 SCV000850983 uncertain significance History of neurodevelopmental disorder 2016-04-14 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762660 SCV000892994 likely benign not provided 2018-04-01 criteria provided, single submitter 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.