Submissions for variant NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)

gnomAD frequency: 0.00365  dbSNP: rs142923613

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000146640	SCV000114534	benign	not specified	2015-03-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000146640	SCV000193946	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146640	SCV000315692	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001088813	SCV000457264	likely benign	Cornelia de Lange syndrome 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000419655	SCV000511634	likely benign	not provided	2017-01-05	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000419655	SCV000728874	benign	not provided	2020-02-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25996639, 21934712)
Invitae	RCV001088813	SCV001013164	benign	Cornelia de Lange syndrome 1	2024-01-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001088813	SCV002055866	benign	Cornelia de Lange syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000419655	SCV002586049	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NIPBL: PM5, BS2
Ambry Genetics	RCV002345401	SCV002641596	benign	Inborn genetic diseases	2017-06-09	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.
Fulgent Genetics, Fulgent Genetics	RCV001088813	SCV002804730	likely benign	Cornelia de Lange syndrome 1	2021-11-04	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000419655	SCV001797598	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000419655	SCV001975193	likely benign	not provided		no assertion criteria provided	clinical testing