ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.817C>T (p.Arg273Cys) (rs757571525)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247492 SCV000318741 uncertain significance Cardiovascular phenotype 2013-06-05 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
GeneDx RCV001566404 SCV001789916 uncertain significance not provided 2020-10-05 no assertion criteria provided clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 263645; Landrum et al., 2016)

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.