ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) (rs192354176)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079604 SCV000604614 benign not specified 2016-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717498 SCV000848350 likely benign History of neurodevelopmental disorder 2016-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585369 SCV000693351 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079604 SCV000111486 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000079604 SCV000170908 benign not specified 2013-10-01 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 RCV000147072 SCV000194421 uncertain significance Early infantile epileptic encephalopathy 9 2013-06-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079604 SCV000596248 benign not specified 2016-05-05 criteria provided, single submitter clinical testing
Invitae RCV000147072 SCV000559658 benign Early infantile epileptic encephalopathy 9 2017-12-08 criteria provided, single submitter clinical testing

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