ClinVar Miner

Submissions for variant NM_001135659.2(NRXN1):c.4368G>A (p.Pro1456=) (rs151195816)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719951 SCV000850824 likely benign History of neurodevelopmental disorder 2017-02-03 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)
Genetic Services Laboratory, University of Chicago RCV000193445 SCV000248287 uncertain significance not specified 2015-07-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343457 SCV000431185 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing

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