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
Ambry Genetics RCV000717642 SCV000848496 likely benign History of neurodevelopmental disorder 2016-06-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000126693 SCV000332680 benign not specified 2015-07-15 criteria provided, single submitter clinical testing
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.
Genetic Services Laboratory, University of Chicago RCV000126693 SCV000595702 likely benign not specified 2016-05-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272183 SCV000416691 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463433 SCV000557164 benign Mental retardation, autosomal dominant 1 2018-01-03 criteria provided, single submitter clinical testing

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