ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.898G>A (p.Val300Met)

gnomAD frequency: 0.00001  dbSNP: rs782455664
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
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659841 SCV000781712 likely benign Rett syndrome 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720695 SCV000851574 likely benign History of neurodevelopmental disorder 2017-03-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Labcorp Genetics (formerly Invitae), Labcorp RCV001513197 SCV001720764 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-06 criteria provided, single submitter 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.