ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) (rs56307810)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079612 SCV000111494 benign not specified 2013-06-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079612 SCV000194438 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Invitae RCV000234669 SCV000286300 benign Early infantile epileptic encephalopathy 9 2017-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715083 SCV000845908 benign History of neurodevelopmental disorder 2016-04-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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