ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.796A>G (p.Ile266Val) (rs568826753)

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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 RCV000724600 SCV000233140 uncertain significance not provided 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000188072 SCV000241676 likely benign not specified 2016-07-13 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 RCV001086087 SCV000545118 benign Mental retardation, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000188072 SCV000595708 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing

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