ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) (rs139534358)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711191 SCV000526048 benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Invitae RCV001085465 SCV000563089 benign Developmental and epileptic encephalopathy 94 2020-11-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711191 SCV000841522 benign not provided 2018-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720232 SCV000851109 likely benign History of neurodevelopmental disorder 2016-07-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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