Submissions for variant NM_001110792.2(MECP2):c.978C>T (p.Ile326=)

gnomAD frequency: 0.00034  dbSNP: rs61751446

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000133295	SCV000248008	benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000133295	SCV000341193	likely benign	not specified	2016-05-04	criteria provided, single submitter	clinical testing
Invitae	RCV000472062	SCV000556750	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000717800	SCV000848659	benign	History of neurodevelopmental disorder	2017-01-03	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx	RCV001682841	SCV001898751	benign	not provided	2020-07-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001682841	SCV002047810	benign	not provided	2020-11-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492518	SCV002799462	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	2022-05-19	criteria provided, single submitter	clinical testing
Centre for Population Genomics, CPG	RCV003380486	SCV004098788	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).
CeGaT Center for Human Genetics Tuebingen	RCV001682841	SCV004165058	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	MECP2: BP4, BP7
RettBASE	RCV000133295	SCV000188304	benign	not specified	2011-03-29	no assertion criteria provided	curation