Submissions for variant NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser)

gnomAD frequency: 0.12117  dbSNP: rs3822471

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082482	SCV000114524	benign	not specified	2014-01-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082482	SCV000315678	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000086371	SCV000457275	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000712413	SCV000842905	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311733	SCV000846076	benign	Inborn genetic diseases	2016-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000086371	SCV001730963	benign	Cornelia de Lange syndrome 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000712413	SCV001940692	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000086371	SCV002055918	benign	Cornelia de Lange syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000086371	SCV000193826	benign	Cornelia de Lange syndrome 1	2013-08-15	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082482	SCV001743553	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082482	SCV001951119	benign	not specified		no assertion criteria provided	clinical testing