ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) (rs143043614)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193134 SCV000247009 uncertain significance not specified 2015-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000193134 SCV000721727 likely benign not specified 2017-08-15 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 RCV000688611 SCV000816231 likely benign Epileptic encephalopathy, childhood-onset 2019-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718993 SCV000849857 likely benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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