Submissions for variant NM_005445.4(SMC3):c.548-5_548-4dup

dbSNP: rs199906378

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147599	SCV000195048	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147599	SCV000233092	benign	not specified	2014-12-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000147599	SCV000311077	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000387787	SCV000360299	likely benign	De Lange syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000547458	SCV000641112	benign	Cornelia de Lange syndrome 3	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312666	SCV000846023	likely benign	Inborn genetic diseases	2019-04-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001574042	SCV001901628	benign	not provided	2017-10-02	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000147599	SCV001743541	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001574042	SCV001800760	likely benign	not provided		no assertion criteria provided	clinical testing