Submissions for variant NM_001110792.2(MECP2):c.414-17del

dbSNP: rs61753982

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000202549	SCV000257509	benign	Rett syndrome	2018-06-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000168682	SCV000330972	benign	not specified	2015-07-20	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000144110	SCV000609828	likely benign	not provided	2017-06-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000144110	SCV001870203	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055862	SCV002432132	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362776	SCV002625773	benign	Inborn genetic diseases	2015-09-23	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Centre for Population Genomics, CPG	RCV000202549	SCV004098860	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).
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000144110	SCV004220013	benign	not provided	2016-03-23	criteria provided, single submitter	clinical testing
RettBASE	RCV000144110	SCV000189186	not provided	not provided		flagged submission	not provided
RettBASE	RCV000168682	SCV000222412	benign	not specified	2013-12-05	no assertion criteria provided	curation
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000144110	SCV000804263	benign	not provided	2015-04-03	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000144110	SCV001742659	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000168682	SCV001970903	benign	not specified		no assertion criteria provided	clinical testing