ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.786C>A (p.Arg262=) (rs61748424)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433166 SCV000524010 likely benign not specified 2016-02-19 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 RCV001089025 SCV000766869 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
RettBASE RCV000133222 SCV000188221 not provided not provided no assertion provided not provided

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