ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7377C>T (p.Gly2459=)

gnomAD frequency: 0.02517  dbSNP: rs59619270
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244672 SCV000313388 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001683091 SCV001900042 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278201 SCV002566318 benign Ehlers-Danlos syndrome 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379082 SCV002670457 benign Cardiovascular phenotype 2019-04-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.

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.