ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2139G>A (p.Glu713=)

gnomAD frequency: 0.00055  dbSNP: rs139194076
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
Invitae RCV001310735 SCV000773190 benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461975 SCV000850299 likely benign Inborn genetic diseases 2016-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001310735 SCV001500647 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001310735 SCV001912660 benign not provided 2019-07-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945656 SCV004775008 benign NEXMIF-related condition 2019-07-12 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.