ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) (rs116746734)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715967 SCV000846799 benign History of neurodevelopmental disorder 2016-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000118830 SCV000258124 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118830 SCV000153477 benign not specified 2016-04-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373171 SCV000470845 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000373171 SCV000630852 benign Cohen syndrome 2018-01-12 criteria provided, single submitter clinical testing

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