ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) (rs191333060)

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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 RCV000079607 SCV000111489 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147080 SCV000194430 uncertain significance Early infantile epileptic encephalopathy 9 2013-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000434675 SCV000241933 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22267240, 19214208)
Genetic Services Laboratory, University of Chicago RCV000079607 SCV000248449 uncertain significance not specified 2015-05-22 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434675 SCV000511395 likely benign not provided 2017-02-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000147080 SCV000559660 likely benign Early infantile epileptic encephalopathy 9 2020-11-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000079607 SCV000614419 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000147080 SCV000782229 likely benign Early infantile epileptic encephalopathy 9 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720924 SCV000851808 benign History of neurodevelopmental disorder 2017-06-27 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656077 SCV000588353 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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