Submissions for variant NM_001110792.2(MECP2):c.933C>T (p.Thr311=)

gnomAD frequency: 0.00200  dbSNP: rs61748423

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081216	SCV000113124	benign	not specified	2012-12-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000081216	SCV000170227	benign	not specified	2013-09-04	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	RCV000081216	SCV000248002	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV001080108	SCV000556746	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712287	SCV000842740	benign	not provided	2017-11-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000715091	SCV000845916	likely benign	History of neurodevelopmental disorder	2016-07-19	criteria provided, single submitter	clinical testing	Other strong data supporting benign classification;Synonymous alterations with insufficient evidence to classify as benign
Fulgent Genetics, Fulgent Genetics	RCV002490712	SCV002794905	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	2021-08-17	criteria provided, single submitter	clinical testing
Centre for Population Genomics, CPG	RCV003380417	SCV004098864	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). Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7).
RettBASE	RCV000081216	SCV000188277	benign	not specified	2013-12-05	no assertion criteria provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000712287	SCV001743859	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081216	SCV001927691	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712287	SCV001967095	likely benign	not provided		no assertion criteria provided	clinical testing