ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) (rs6468694)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081867 SCV000113802 benign not specified 2014-01-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081867 SCV000316182 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389102 SCV000470851 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.
Athena Diagnostics Inc RCV000389102 SCV000677255 benign Cohen syndrome 2017-05-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000389102 SCV000743200 benign Cohen syndrome 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000389102 SCV000744242 benign Cohen syndrome 2015-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715388 SCV000846217 benign History of neurodevelopmental disorder 2016-03-13 criteria provided, single submitter clinical testing Sub-population frequency in support of benign classification (not ava blue, manual h-w);In silico models in agreement (benign)
Integrated Genetics/Laboratory Corporation of America RCV000081867 SCV001372305 likely benign not specified 2020-06-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081867 SCV000153481 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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