ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) (rs56268439)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716944 SCV000847789 benign History of neurodevelopmental disorder 2014-08-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224642 SCV000609420 likely benign not provided 2017-06-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224642 SCV000280649 likely benign not provided 2014-11-26 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000202529 SCV000257517 uncertain significance Rett syndrome 2013-09-04 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000224642 SCV000804256 benign not provided 2015-04-03 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081194 SCV000113102 benign not specified 2012-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000081194 SCV000170232 benign not specified 2016-07-15 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 RCV000081194 SCV000247940 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV000475017 SCV000556742 benign Severe neonatal-onset encephalopathy with microcephaly 2017-11-30 criteria provided, single submitter clinical testing
RettBASE RCV000081194 SCV000187932 benign not specified 2013-12-05 no assertion criteria provided curation

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