ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) (rs587783744)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486852 SCV000572193 likely benign not specified 2016-11-08 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 RCV000486852 SCV000595746 uncertain significance not specified 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV001034236 SCV001197567 likely benign Severe neonatal-onset encephalopathy with microcephaly 2019-08-12 criteria provided, single submitter clinical testing
RettBASE RCV000170286 SCV000222618 uncertain significance Rett syndrome 2008-02-18 no assertion criteria provided curation

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