ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) (rs7833870)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081913 SCV000113848 benign not specified 2012-11-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081913 SCV000316201 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378284 SCV000470825 benign Cohen syndrome 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000378284 SCV000743193 benign Cohen syndrome 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000378284 SCV000744236 benign Cohen syndrome 2015-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715615 SCV000846444 benign History of neurodevelopmental disorder 2016-04-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081913 SCV000153495 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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