ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) (rs56086732)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079514 SCV000111396 benign not specified 2012-07-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079514 SCV000152105 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000079514 SCV000241839 likely benign not specified 2017-09-29 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.
Invitae RCV001083273 SCV000286212 likely benign Pitt-Hopkins-like syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000443049 SCV000511751 benign not provided 2016-07-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000443049 SCV000842947 benign not provided 2017-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715105 SCV000845931 likely benign History of neurodevelopmental disorder 2018-11-01 criteria provided, single submitter clinical testing Does not segregate in family study ;In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000443049 SCV001152306 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001083273 SCV001302027 likely benign Pitt-Hopkins-like syndrome 2 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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