ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) (rs55640811)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723673 SCV000111391 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000186642 SCV000170797 benign not specified 2014-01-07 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 RCV000186642 SCV000248271 uncertain significance not specified 2015-03-13 criteria provided, single submitter clinical testing
Invitae RCV001082246 SCV000651801 benign Pitt-Hopkins-like syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717079 SCV000847925 likely benign History of neurodevelopmental disorder 2016-09-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV001082246 SCV001304115 uncertain significance Pitt-Hopkins-like syndrome 2 2018-01-15 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723673 SCV001371639 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing

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