ClinVar Miner

Submissions for variant NM_001482.2(GATM):c.407C>T (p.Thr136Met) (rs148564534)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719482 SCV000850349 benign History of neurodevelopmental disorder 2016-06-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437121 SCV000511235 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000187598 SCV000241193 likely benign not specified 2017-09-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Hospital for Sick Children RCV000437121 SCV000267662 not provided not provided no assertion provided in vitro
Invitae RCV000553576 SCV000646410 benign Arginine:glycine amidinotransferase deficiency 2017-12-27 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.