ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) (rs201727684)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716763 SCV000847606 likely benign History of neurodevelopmental disorder 2016-08-22 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)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723784 SCV000203145 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000186641 SCV000170795 benign not specified 2013-01-14 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.
Genetic Services Laboratory, University of Chicago RCV000186641 SCV000596069 likely benign not specified 2017-05-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293453 SCV000431207 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460852 SCV000562376 likely benign Pitt-Hopkins-like syndrome 2 2017-07-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000186641 SCV000306816 likely benign not specified criteria provided, single submitter clinical testing

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