Submissions for variant NM_001110792.2(MECP2):c.813C>T (p.Ala271=)

gnomAD frequency: 0.00028  dbSNP: rs1042870

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081210	SCV000113118	benign	not specified	2013-12-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000081210	SCV000170223	benign	not specified	2014-05-21	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	RCV000081210	SCV000193641	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000225594	SCV000282497	benign	Rett syndrome	2015-08-07	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712285	SCV000842736	benign	not provided	2018-06-18	criteria provided, single submitter	clinical testing
Invitae	RCV001087780	SCV001002407	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712285	SCV001150514	likely benign	not provided	2016-09-01	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000712285	SCV004220017	benign	not provided	2018-06-18	criteria provided, single submitter	clinical testing
RettBASE	RCV000081210	SCV000188238	benign	not specified	2010-12-03	no assertion criteria provided	curation
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000712285	SCV001930112	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712285	SCV001966813	likely benign	not provided		no assertion criteria provided	clinical testing