ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) (rs200248561)

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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 RCV000717118 SCV000847964 likely benign History of neurodevelopmental disorder 2016-06-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000712451 SCV000842948 likely benign not provided 2017-09-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186644 SCV000203149 likely benign not specified 2015-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000186644 SCV000170804 benign not specified 2013-01-22 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 RCV000186644 SCV000596076 likely benign not specified 2017-04-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316305 SCV000431219 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528136 SCV000651833 benign Pitt-Hopkins-like syndrome 2 2017-11-27 criteria provided, single submitter clinical testing

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