ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) (rs36074608)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715390 SCV000846219 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000366445 SCV000677256 benign Cohen syndrome 2017-05-17 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000366445 SCV000744239 benign Cohen syndrome 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000366445 SCV000734590 benign Cohen syndrome no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081923 SCV000113858 benign not specified 2015-09-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081923 SCV000153499 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 RCV000366445 SCV000743196 benign Cohen syndrome 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366445 SCV000470839 benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081923 SCV000540660 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, 2 labs classify as benign in ClinVar
PreventionGenetics RCV000081923 SCV000316206 benign not specified criteria provided, single submitter clinical testing

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