ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) (rs61753724)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715586 SCV000846415 benign History of neurodevelopmental disorder 2016-05-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000326662 SCV000744234 benign Cohen syndrome 2015-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081910 SCV000113845 benign not specified 2012-11-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081910 SCV000153494 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000326662 SCV000743191 benign Cohen syndrome 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326662 SCV000470821 likely benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000326662 SCV000630883 benign Cohen syndrome 2017-08-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081910 SCV000316199 benign not specified criteria provided, single submitter clinical testing

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