ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) (rs145475623)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188109 SCV000241716 likely benign not specified 2017-05-17 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.
Elsea Laboratory,Baylor College of Medicine RCV000456009 SCV000264476 likely pathogenic MBD5 associated neurodevelopmental disorder 2012-10-01 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725184 SCV000334727 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000188109 SCV000595712 likely benign not specified 2016-02-25 criteria provided, single submitter clinical testing
Invitae RCV001084711 SCV000767029 benign Mental retardation, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715779 SCV000846610 likely benign History of neurodevelopmental disorder 2017-11-02 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725184 SCV001334870 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing

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