Submissions for variant NM_005445.4(SMC3):c.2329T>C (p.Leu777=)

gnomAD frequency: 0.00132  dbSNP: rs76625999

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147585	SCV000195034	uncertain significance	Cornelia de Lange syndrome 3	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000176209	SCV000227824	likely benign	not specified	2015-01-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000176209	SCV000311070	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000147585	SCV000360315	benign	Cornelia de Lange syndrome 3	2018-01-12	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.
Invitae	RCV000147585	SCV000763302	benign	Cornelia de Lange syndrome 3	2024-01-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713375	SCV000843975	benign	not provided	2018-04-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312663	SCV000847156	likely benign	Inborn genetic diseases	2016-06-16	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	RCV000713375	SCV003916637	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SMC3: BP4, BP7, BS1