ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1638C>T (p.Ala546=) (rs116413446)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180665 SCV000233144 benign not specified 2014-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000180665 SCV000241663 benign not specified 2014-08-15 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.
Genetic Services Laboratory, University of Chicago RCV000180665 SCV000247905 likely benign not specified 2015-05-29 criteria provided, single submitter clinical testing
Invitae RCV000232364 SCV000290458 benign Mental retardation, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717267 SCV000848116 benign History of neurodevelopmental disorder 2016-11-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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