ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) (rs587781033)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000153484 SCV000170238 likely benign not specified 2017-12-14 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153484 SCV000203000 benign not specified 2014-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000153484 SCV000247953 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720505 SCV000851382 likely benign History of neurodevelopmental disorder 2016-12-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000869611 SCV001011051 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
RettBASE RCV000153484 SCV000222405 benign not specified 2013-06-12 no assertion criteria provided curation

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