ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) (rs79219767)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443641 SCV000525193 benign not specified 2016-05-24 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 RCV001081773 SCV000654335 benign Developmental and epileptic encephalopathy 94 2020-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716853 SCV000847697 likely benign History of neurodevelopmental disorder 2016-08-30 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000537068 SCV001143540 benign not provided 2018-11-27 criteria provided, single submitter clinical testing

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