ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) (rs143495349)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127236 SCV000170791 benign not specified 2013-01-30 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.
Illumina Clinical Services Laboratory,Illumina RCV001085278 SCV000431184 likely benign Pitt-Hopkins-like syndrome 2 2018-01-12 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.
Invitae RCV001085278 SCV000562385 benign Pitt-Hopkins-like syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000127236 SCV000596059 uncertain significance not specified 2016-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715969 SCV000846801 likely benign History of neurodevelopmental disorder 2016-06-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000463080 SCV001144782 benign not provided 2018-11-29 criteria provided, single submitter clinical testing

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