ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)

gnomAD frequency: 0.25264  dbSNP: rs17421133
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253463 SCV000313350 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000987672 SCV001137086 benign Ehlers-Danlos syndrome due to tenascin-X deficiency 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001618458 SCV001845718 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000987672 SCV002098623 benign Ehlers-Danlos syndrome due to tenascin-X deficiency 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838592 SCV002098624 benign Vesicoureteral reflux 8 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356351 SCV002660482 benign Cardiovascular phenotype 2018-12-17 criteria provided, single submitter clinical testing This alteration is classified as 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.

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.