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
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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186644 SCV000203149 likely benign not specified 2015-10-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085357 SCV000431219 likely benign Pitt-Hopkins-like syndrome 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000186644 SCV000596076 likely benign not specified 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV001085357 SCV000651833 benign Pitt-Hopkins-like syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712451 SCV000842948 likely benign not provided 2017-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717118 SCV000847964 likely benign History of neurodevelopmental disorder 2016-06-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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