ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2162C>T (p.Pro721Leu) (rs138639760)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188092 SCV000241696 likely benign not specified 2017-11-07 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.
Invitae RCV000530172 SCV000645787 benign Mental retardation, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717527 SCV000848380 likely benign History of neurodevelopmental disorder 2018-08-14 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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