ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)

dbSNP: rs160278
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180252 SCV000232651 uncertain significance not provided 2014-06-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273472 SCV000458711 likely benign Wagner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273472 SCV000458712 likely benign Wagner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333214 SCV000458713 benign Vitreoretinopathy 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000180252 SCV001026350 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000180252 SCV004159066 benign not provided 2022-07-01 criteria provided, single submitter clinical testing VCAN: BS1, BS2
Clinical Genetics, Academic Medical Center RCV000180252 SCV001923863 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000180252 SCV001971550 likely benign not provided no assertion criteria provided clinical testing

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