ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.411C>A (p.Ile137=) (rs146107517)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081201 SCV000113109 benign not specified 2013-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000081201 SCV000170216 benign not specified 2013-05-01 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 RCV000081201 SCV000247965 benign not specified 2018-04-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081201 SCV000310760 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001087820 SCV000556728 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712283 SCV000842733 benign not provided 2017-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716805 SCV000847649 likely benign History of neurodevelopmental disorder 2016-08-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000712283 SCV001150519 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
RettBASE RCV000081201 SCV000188072 benign not specified 2011-11-01 no assertion criteria provided curation
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000081201 SCV000257508 benign not specified 2007-05-09 no assertion criteria provided clinical testing

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