Submissions for variant NM_001110792.2(MECP2):c.1362C>T (p.Thr454=)

gnomAD frequency: 0.00015  dbSNP: rs61751363

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146353	SCV000193629	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV001078556	SCV000556741	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757449	SCV000885674	benign	not provided	2017-11-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000757449	SCV001912444	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Centre for Population Genomics, CPG	RCV003380468	SCV004098791	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 Specifications 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).
PreventionGenetics, part of Exact Sciences	RCV003925282	SCV004738306	benign	MECP2-related condition	2019-10-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
RettBASE	RCV000146353	SCV000187975	benign	not specified	2012-08-10	no assertion criteria provided	curation