Submissions for variant NM_133433.4(NIPBL):c.4561-9T>A

gnomAD frequency: 0.02103  dbSNP: rs79924167

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082491	SCV000114533	benign	not specified	2013-01-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082491	SCV000193915	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082491	SCV000315690	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000870940	SCV000457293	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000870940	SCV001012516	benign	Cornelia de Lange syndrome 1	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000082491	SCV001475238	benign	not specified	2019-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001668211	SCV001887964	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000870940	SCV002055936	benign	Cornelia de Lange syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing