ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) (rs138127778)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716072 SCV000846905 benign History of neurodevelopmental disorder 2017-05-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428325 SCV000511369 likely benign not provided 2016-10-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000118831 SCV000512681 likely benign not specified 2015-05-26 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.
Genetic Services Laboratory, University of Chicago RCV000118831 SCV000153478 benign not specified 2014-01-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385723 SCV000470848 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000385723 SCV000630853 benign Cohen syndrome 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118831 SCV000316180 likely benign not specified criteria provided, single submitter clinical testing

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