Submissions for variant NM_004385.5(VCAN):c.5187G>A (p.Glu1729=)

gnomAD frequency: 0.00302  dbSNP: rs35648048

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000154118	SCV000203781	benign	not specified	2014-05-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000154118	SCV000310320	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302966	SCV000458642	likely benign	Wagner syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000393526	SCV000458643	benign	Vitreoretinopathy	2018-01-13	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.
Illumina Laboratory Services, Illumina	RCV000302966	SCV000458644	likely benign	Wagner syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000302966	SCV000744198	likely benign	Wagner syndrome	2017-11-08	criteria provided, single submitter	clinical testing
Invitae	RCV000960144	SCV001107094	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000960144	SCV004700308	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	VCAN: BP4, BP7, BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000154118	SCV001920802	benign	not specified		no assertion criteria provided	clinical testing