ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.631G>A (p.Glu211Lys) (rs116192290)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549987 SCV000636427 benign Non-ketotic hyperglycinemia 2020-12-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000549987 SCV000743157 likely benign Non-ketotic hyperglycinemia 2014-10-09 criteria provided, single submitter clinical testing
Mendelics RCV000549987 SCV001136523 likely benign Non-ketotic hyperglycinemia 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991518 SCV001143008 benign not provided 2018-09-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000991518 SCV001153957 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000549987 SCV001311639 likely benign Non-ketotic hyperglycinemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Nilou-Genome Lab RCV000549987 SCV001762853 likely benign Non-ketotic hyperglycinemia 2021-07-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000549987 SCV000734285 benign Non-ketotic hyperglycinemia no assertion criteria provided clinical testing
Natera, Inc. RCV000549987 SCV001456314 benign Non-ketotic hyperglycinemia 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573069 SCV001798398 benign not specified 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.