ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) (rs201818223)

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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 RCV000719870 SCV000850741 uncertain significance History of neurodevelopmental disorder 2017-12-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723597 SCV000111399 uncertain significance not provided 2013-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515261 SCV000611416 uncertain significance Pitt-Hopkins-like syndrome 2; Schizophrenia 17 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000188281 SCV000241892 likely benign not specified 2017-12-27 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 RCV000188281 SCV000248282 uncertain significance not specified 2015-06-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322721 SCV000431202 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234388 SCV000286214 benign Pitt-Hopkins-like syndrome 2 2017-12-26 criteria provided, single submitter clinical testing

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