ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) (rs185678374)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146540 SCV000193835 uncertain significance Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000254129 SCV000225093 likely benign not specified 2016-04-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000254129 SCV000315679 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000146540 SCV000457277 likely benign Cornelia de Lange syndrome 1 2018-01-13 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513777 SCV000610860 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719873 SCV000850744 benign History of neurodevelopmental disorder 2016-07-01 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
Invitae RCV000146540 SCV001016592 likely benign Cornelia de Lange syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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