Submissions for variant NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)

gnomAD frequency: 0.00034  dbSNP: rs61749713

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000133167	SCV000230277	benign	not specified	2015-04-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000133167	SCV000247979	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV000533995	SCV000645670	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000720795	SCV000851678	benign	History of neurodevelopmental disorder	2017-05-08	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.
Mendelics	RCV000990999	SCV001142087	benign	Rett syndrome	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001529816	SCV001835967	benign	not provided	2018-11-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17387578, 12111644, 15211631)
CeGaT Center for Human Genetics Tuebingen	RCV001529816	SCV002564135	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	MECP2: BP4, BS2
Fulgent Genetics, Fulgent Genetics	RCV002498652	SCV002798045	likely benign	Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3	2021-10-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927412	SCV004738138	likely benign	MECP2-related condition	2021-05-26	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).
RettBASE	RCV000133167	SCV000188160	benign	not specified	2011-03-29	no assertion criteria provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529816	SCV001743943	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529816	SCV001926595	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000133167	SCV001957171	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000133167	SCV001974974	benign	not specified		no assertion criteria provided	clinical testing