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

gnomAD frequency: 0.00354  dbSNP: rs145778995

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	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, part of Exact Sciences	RCV003891578	SCV000315695	benign	NIPBL-related condition	2020-04-24	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, 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	RCV000431680	SCV000520140	benign	not provided	2019-02-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17661813, 24038889, 24918291, 15318302)
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000614790	SCV000744320	benign	Cornelia de Lange syndrome 1	2016-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311737	SCV000847151	benign	Inborn genetic diseases	2018-05-01	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	RCV000614790	SCV001005543	benign	Cornelia de Lange syndrome 1	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000431680	SCV001144756	benign	not provided	2019-06-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000614790	SCV002055940	benign	Cornelia de Lange syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000431680	SCV002497319	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NIPBL: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000614790	SCV000734407	likely benign	Cornelia de Lange syndrome 1		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000431680	SCV001800783	likely benign	not provided		no assertion criteria provided	clinical testing