Submissions for variant NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)

gnomAD frequency: 0.00095  dbSNP: rs140100861

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000146529	SCV000114522	likely benign	not specified	2012-08-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000146529	SCV000193823	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079668	SCV000457274	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513958	SCV000610826	likely benign	not provided	2017-07-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079668	SCV000657485	benign	Cornelia de Lange syndrome 1	2025-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313830	SCV000847576	benign	Inborn genetic diseases	2016-04-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx	RCV000513958	SCV001857262	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001079668	SCV002055917	benign	Cornelia de Lange syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000513958	SCV005259777	likely benign	not provided		criteria provided, single submitter	not provided