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	RCV000079607	SCV000241933	likely benign	not specified	2018-02-01	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	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	2019-12-31	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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