Submissions for variant NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)

gnomAD frequency: 0.00280  dbSNP: rs80358354

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250063	SCV000315687	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000250063	SCV000335092	benign	not specified	2015-09-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000250063	SCV000729292	benign	not specified	2018-01-22	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.
Athena Diagnostics Inc	RCV000712415	SCV000842907	benign	not provided	2018-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316288	SCV000849819	likely benign	Inborn genetic diseases	2016-12-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000086376	SCV001020654	benign	Cornelia de Lange syndrome 1	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000086376	SCV001313242	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.
Genome-Nilou Lab	RCV000086376	SCV002055927	benign	Cornelia de Lange syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712415	SCV004160887	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	NIPBL: BP4, BP7, BS1
Genetic Services Laboratory, University of Chicago	RCV000086376	SCV000118522	unknown significance	Cornelia de Lange syndrome 1		no assertion criteria provided	not provided	Converted during submission to Uncertain significance.