ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.*9G>A

gnomAD frequency: 0.00080  dbSNP: rs144008995
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153483 SCV000202999 benign not specified 2014-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000153483 SCV000595743 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719347 SCV000850213 benign History of neurodevelopmental disorder 2013-12-29 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.
GeneDx RCV001705936 SCV001912086 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003380455 SCV004098844 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). The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2)
PreventionGenetics, part of Exact Sciences RCV004532587 SCV004719769 likely benign MECP2-related disorder 2019-07-02 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 RCV000153483 SCV000187799 benign not specified 2010-08-24 no assertion criteria provided curation

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