Submissions for variant NM_001110792.2(MECP2):c.618C>T (p.Ser206=)

gnomAD frequency: 0.00189  dbSNP: rs61749711

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081205	SCV000113113	benign	not specified	2013-04-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000081205	SCV000170218	benign	not specified	2012-04-09	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	RCV000081205	SCV000247978	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV000470805	SCV000556747	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000718465	SCV000849328	benign	History of neurodevelopmental disorder	2016-07-01	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001529048	SCV001962674	likely benign	not provided	2021-08-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542784	SCV004784183	likely benign	MECP2-related disorder	2019-04-09	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Centre for Population Genomics, CPG	RCV003990965	SCV004808870	benign	Rett syndrome	2024-03-22	criteria provided, single submitter	curation	This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 3.0 (BA1).
RettBASE	RCV000081205	SCV000188158	benign	not specified	2013-12-05	no assertion criteria provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529048	SCV001741842	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529048	SCV001927478	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081205	SCV001954183	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529048	SCV001971293	likely benign	not provided		no assertion criteria provided	clinical testing