ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.504A>G (p.Val168=) (rs370160994)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128380 SCV000171976 benign not specified 2014-02-06 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.
Genetic Services Laboratory, University of Chicago RCV000128380 SCV000597416 likely benign not specified 2015-11-18 criteria provided, single submitter clinical testing
Invitae RCV001082033 SCV000646130 likely benign Pitt-Hopkins syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727317 SCV000707489 uncertain significance not provided 2017-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719758 SCV000850628 likely benign History of neurodevelopmental disorder 2017-01-24 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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