ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1111C>G (p.Gln371Glu) (rs536900412)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188079 SCV000241683 benign not specified 2016-06-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000364648 SCV000416690 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474532 SCV000557174 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000188079 SCV000595701 likely benign not specified 2017-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718155 SCV000849017 benign History of neurodevelopmental disorder 2017-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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