ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.1832G>A (p.Arg611Lys) (rs61754109)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723771 SCV000113817 uncertain significance not provided 2015-04-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194373 SCV000249401 uncertain significance not specified 2015-07-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403642 SCV000470771 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000403642 SCV000611528 uncertain significance Cohen syndrome 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000723771 SCV000755438 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718294 SCV000849156 likely benign History of neurodevelopmental disorder 2017-04-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Other data supporting benign classification

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