ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.2275G>C (p.Val759Leu) (rs140848350)

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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 RCV000081885 SCV000113820 benign not specified 2013-10-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081885 SCV000153485 benign not specified 2016-05-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224853 SCV000281536 benign not provided 2016-01-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081885 SCV000316189 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306903 SCV000470775 likely benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000081885 SCV000512676 benign not specified 2015-07-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000224853 SCV000630864 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715940 SCV000846772 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)

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