ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1368G>T (p.Ser456=) (rs146020786)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126693 SCV000170202 benign not specified 2014-05-01 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000126693 SCV000332680 benign not specified 2015-07-15 criteria provided, single submitter clinical testing
Invitae RCV000463433 SCV000557164 benign Mental retardation, autosomal dominant 1 2020-11-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000126693 SCV000595702 likely benign not specified 2016-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717642 SCV000848496 likely benign History of neurodevelopmental disorder 2016-06-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529593 SCV001743289 likely benign not provided no assertion criteria provided clinical testing

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