ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) (rs186163798)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195014 SCV000247011 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000195014 SCV000307171 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000195014 SCV000535203 likely benign not specified 2017-07-07 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.
Invitae RCV000467818 SCV000553249 likely benign Epileptic encephalopathy, childhood-onset 2019-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718502 SCV000849366 likely benign History of neurodevelopmental disorder 2019-02-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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