ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2254A>G (p.Ile752Val) (rs147455836)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441893 SCV000513541 likely benign not specified 2018-02-05 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513420 SCV000608963 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Invitae RCV001087105 SCV000645789 benign Mental retardation, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715897 SCV000846729 likely benign History of neurodevelopmental disorder 2016-10-12 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign)

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