ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.696C>T (p.Leu232=) (rs267608512)

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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 RCV000168687 SCV000342594 likely benign not specified 2016-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000842156 SCV000984153 likely benign not provided 2018-04-18 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.
Invitae RCV000842156 SCV001010344 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
RettBASE RCV000168687 SCV000188188 benign not specified 2008-02-18 no assertion criteria provided curation

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