ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1206+33T>G

gnomAD frequency: 0.73774  dbSNP: rs7460625
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245799 SCV000316187 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245799 SCV000512675 benign not specified 2015-09-08 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000245799 SCV000540659 benign not specified 2016-03-28 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: MAF
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000601589 SCV000743186 benign Cohen syndrome 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000601589 SCV000744229 benign Cohen syndrome 2015-07-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000601589 SCV001748562 benign Cohen syndrome 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712223 SCV005267263 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601589 SCV000734588 benign Cohen syndrome no assertion criteria provided clinical testing

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