ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3896G>A (p.Arg1299Gln) (rs35934694)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719447 SCV000850314 uncertain significance History of neurodevelopmental disorder 2016-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000188120 SCV000241727 likely benign not specified 2017-11-02 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 RCV000645293 SCV000767035 likely benign Mental retardation, autosomal dominant 1 2017-10-10 criteria provided, single submitter clinical testing

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