Submissions for variant NM_133433.4(NIPBL):c.615G>A (p.Ser205=)

gnomAD frequency: 0.00048  dbSNP: rs150678035

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146672	SCV000193985	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726388	SCV000344290	uncertain significance	not provided	2016-09-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001088387	SCV000457265	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.
Invitae	RCV001088387	SCV001019215	likely benign	Cornelia de Lange syndrome 1	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000726388	SCV001828490	benign	not provided	2020-11-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001088387	SCV002054170	benign	Cornelia de Lange syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354334	SCV002660382	likely benign	Inborn genetic diseases	2017-12-18	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.
CeGaT Center for Human Genetics Tuebingen	RCV000726388	SCV004160870	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NIPBL: BP4, BP7