Submissions for variant NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)

gnomAD frequency: 0.00007  dbSNP: rs112525060

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147588	SCV000195037	uncertain significance	Cornelia de Lange syndrome 3	2013-03-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312979	SCV000848213	likely benign	Inborn genetic diseases	2016-11-04	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.
CeGaT Center for Human Genetics Tuebingen	RCV000876948	SCV001246706	likely benign	not provided	2020-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000147588	SCV001593363	likely benign	Cornelia de Lange syndrome 3	2024-11-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975167	SCV004787355	likely benign	SMC3-related disorder	2019-03-01	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).