ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.7419C>T (p.Ser2473=)

gnomAD frequency: 0.00819  dbSNP: rs61754536
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367858 SCV000458726 benign Wagner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312703 SCV000458727 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 RCV000367858 SCV000458728 benign Wagner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000367858 SCV000744199 likely benign Wagner syndrome 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000953217 SCV001099779 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000953217 SCV004159068 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing VCAN: BP4, BP7, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000367858 SCV000745619 benign Wagner syndrome 2017-01-20 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700343 SCV001917203 benign not specified no assertion criteria provided clinical testing

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