ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) (rs34995577)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716739 SCV000847582 likely benign History of neurodevelopmental disorder 2018-01-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Does not segregate with disease in family study (genes with incomplete penetrance),Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000712260 SCV000842706 likely benign not provided 2018-04-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000712260 SCV000232763 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing
Elsea Laboratory,Baylor College of Medicine RCV000455290 SCV000264475 likely pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
Fulgent Genetics RCV000470089 SCV000611479 uncertain significance Mental retardation, autosomal dominant 1 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000188125 SCV000241732 likely benign not specified 2017-09-15 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 RCV000188125 SCV000247908 likely benign not specified 2015-10-21 criteria provided, single submitter clinical testing
Invitae RCV000470089 SCV000557165 likely benign Mental retardation, autosomal dominant 1 2017-11-07 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000470089 SCV000782477 uncertain significance Mental retardation, autosomal dominant 1 2016-08-21 criteria provided, single submitter clinical testing

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