ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) (rs79970751)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000079527 SCV000170818 benign not specified 2012-04-30 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079527 SCV000345180 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Invitae RCV001080183 SCV000562387 benign Pitt-Hopkins-like syndrome 2 2020-12-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079527 SCV000596062 likely benign not specified 2017-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710166 SCV000614363 likely benign not provided 2018-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715126 SCV000845952 likely benign History of neurodevelopmental disorder 2016-05-03 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV001080183 SCV001303900 benign Pitt-Hopkins-like syndrome 2 2017-05-21 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000710166 SCV001740203 likely benign not provided no assertion criteria provided clinical testing

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