ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg)

dbSNP: rs267608533
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000133257 SCV000248000 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003483520 SCV004232226 uncertain significance Rett syndrome 2024-01-15 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 3.0, this variant is classified as likely benign. At least the following criteria are met: The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2).
RettBASE RCV000133257 SCV000188263 uncertain significance not specified 2011-02-15 no assertion criteria provided curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.