ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.897C>T (p.Thr299=) (rs61748423)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715091 SCV000845916 likely benign History of neurodevelopmental disorder 2016-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Other strong data supporting benign classification
Athena Diagnostics Inc RCV000712287 SCV000842740 benign not provided 2017-11-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081216 SCV000113124 benign not specified 2012-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000081216 SCV000170227 benign not specified 2013-09-04 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 RCV000081216 SCV000248002 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000463651 SCV000556746 benign Severe neonatal-onset encephalopathy with microcephaly 2018-01-02 criteria provided, single submitter clinical testing
RettBASE RCV000081216 SCV000188277 benign not specified 2013-12-05 no assertion criteria provided curation

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