ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.27C>T (p.Phe9=) (rs75191413)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173233 SCV000224328 benign not specified 2015-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715545 SCV000846374 likely benign History of neurodevelopmental disorder 2016-05-12 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000870876 SCV001012438 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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