ClinVar Miner

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

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Total submissions: 8
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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 likely benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
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 Lines of evidence used in support of classification: Sub-population frequency in support of benign classification (not ava blue, manual h-w),In silico models in agreement (benign)
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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