ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) (rs184545774)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000179377 SCV000170897 benign not specified 2013-06-14 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179377 SCV000231615 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179377 SCV000248448 benign not specified 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV000457399 SCV000559648 likely benign Early infantile epileptic encephalopathy 9 2019-12-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000457399 SCV000782228 likely benign Early infantile epileptic encephalopathy 9 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716730 SCV000847573 benign History of neurodevelopmental disorder 2018-05-22 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;In silico models in agreement (benign)
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000457399 SCV000734795 likely benign Early infantile epileptic encephalopathy 9 no assertion criteria provided clinical testing

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