Submissions for variant NM_001110792.2(MECP2):c.*9G>A

gnomAD frequency: 0.00080  dbSNP: rs144008995

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153483	SCV000202999	benign	not specified	2014-01-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000153483	SCV000595743	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000719347	SCV000850213	benign	History of neurodevelopmental disorder	2013-12-29	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.
GeneDx	RCV001705936	SCV001912086	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Centre for Population Genomics, CPG	RCV003380455	SCV004098844	benign	Rett syndrome	2023-08-14	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 to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0 , 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 2.0 (BA1). The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2)
RettBASE	RCV000153483	SCV000187799	benign	not specified	2010-08-24	no assertion criteria provided	curation
PreventionGenetics, part of Exact Sciences	RCV004532587	SCV004719769	likely benign	MECP2-related disorder	2019-07-02	no assertion criteria provided	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).