ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) (rs139640224)

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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 RCV000719257 SCV000850123 uncertain significance History of neurodevelopmental disorder 2017-03-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081905 SCV000113840 benign not specified 2012-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000081905 SCV000714721 likely benign not specified 2018-01-09 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 RCV000081905 SCV000249414 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Invitae RCV000634137 SCV000755433 likely benign Cohen syndrome 2018-01-05 criteria provided, single submitter clinical testing

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