ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.9380-4T>A

gnomAD frequency: 0.00038  dbSNP: rs139854446
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000329145 SCV000458819 likely benign Wagner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329145 SCV000458820 likely benign Wagner syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293922 SCV000458821 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 RCV001515745 SCV001723887 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515745 SCV005226290 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003957827 SCV004772982 likely benign VCAN-related disorder 2020-03-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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