ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.377+266T>C (rs2075596)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144103 SCV000986595 benign not provided 2018-06-18 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.
RettBASE RCV000144103 SCV000189179 not provided not provided no assertion provided not provided
RettBASE RCV000170089 SCV000222407 benign not specified 2010-08-24 no assertion criteria provided curation

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