ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.69G>A (p.Val23=) (rs151204004)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724527 SCV000231757 uncertain significance not provided 2015-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000179500 SCV000518323 likely benign not specified 2017-04-13 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 RCV001083053 SCV000767017 benign Mental retardation, autosomal dominant 1 2020-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717134 SCV000847980 likely benign History of neurodevelopmental disorder 2016-10-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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