Submissions for variant NM_005445.4(SMC3):c.1671-6A>G

gnomAD frequency: 0.00124  dbSNP: rs200848781

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000876182	SCV000360309	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.
Athena Diagnostics	RCV000517218	SCV000615337	benign	not specified	2021-01-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000517218	SCV000708975	likely benign	not specified	2017-06-12	criteria provided, single submitter	clinical testing
Invitae	RCV000876182	SCV001018717	benign	Cornelia de Lange syndrome 3	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001573217	SCV001819641	likely benign	not provided	2019-03-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000876182	SCV002802700	likely benign	Cornelia de Lange syndrome 3	2021-08-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573217	SCV003916636	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	SMC3: BP4, BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573217	SCV001798738	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573217	SCV001975351	likely benign	not provided		no assertion criteria provided	clinical testing