ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) (rs150268140)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083676 SCV000286960 benign Epileptic encephalopathy, childhood-onset 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245432 SCV000307174 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245432 SCV000523405 benign not specified 2016-02-29 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.
Athena Diagnostics Inc RCV000711184 SCV000841515 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716797 SCV000847640 likely benign History of neurodevelopmental disorder 2016-07-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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