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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