ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6109-3T>C (rs145778995)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082498 SCV000114540 benign not specified 2012-12-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000082498 SCV000193981 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082498 SCV000315695 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000614790 SCV000457300 benign Cornelia de Lange syndrome 1 2018-03-06 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000431680 SCV000510691 likely benign not provided 2016-08-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000082498 SCV000520140 likely benign not specified 2017-08-31 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000614790 SCV000744320 benign Cornelia de Lange syndrome 1 2016-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716311 SCV000847151 benign History of neurodevelopmental disorder 2018-05-01 criteria provided, single submitter clinical testing Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000614790 SCV001005543 benign Cornelia de Lange syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000431680 SCV001144756 benign not provided 2019-06-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614790 SCV000734407 likely benign Cornelia de Lange syndrome 1 no assertion criteria provided clinical testing

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