ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) (rs61753973)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146352 SCV000193628 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000471943 SCV000513574 benign not provided 2019-03-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12566531, 10767337, 12872250, 12384770, 16763963)
Invitae RCV001089023 SCV000556733 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000146352 SCV000708129 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715544 SCV000846373 benign History of neurodevelopmental disorder 2018-05-31 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;In silico models in agreement (benign) ;Other data supporting benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000471943 SCV001150510 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000146352 SCV001157690 likely benign not specified 2019-01-23 criteria provided, single submitter clinical testing
RettBASE RCV000132986 SCV000187970 likely benign Mental retardation, X-linked, syndromic 13 2016-04-26 no assertion criteria provided research
RettBASE RCV000170236 SCV000222566 likely benign Attention deficit hyperactivity disorder 2016-04-26 no assertion criteria provided research
RettBASE RCV000170237 SCV000222567 likely benign Autism, susceptibility to, X-linked 3 2016-04-26 no assertion criteria provided research
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000471943 SCV001927574 likely benign not provided no assertion criteria provided clinical testing

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.