ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) (rs61748381)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000153477 SCV000170220 benign not specified 2016-06-17 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 RCV000153477 SCV000202984 benign not specified 2014-04-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000153477 SCV000247981 benign not specified 2013-06-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224215 SCV000281574 benign not provided 2015-02-10 criteria provided, single submitter clinical testing
Invitae RCV001083234 SCV000556752 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000202489 SCV000746807 likely benign Rett syndrome 2017-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717310 SCV000848159 benign History of neurodevelopmental disorder 2016-07-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Co-occurence with mutation in same gene (phase unknown);Subpopulation frequency in support of benign classification
RettBASE RCV000153477 SCV000188167 benign not specified 2013-06-12 no assertion criteria provided curation
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000202489 SCV000257513 pathogenic Rett syndrome 2012-08-17 no assertion criteria provided clinical testing

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