ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7451+3G>A (rs397518030)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041908 SCV000065604 likely benign not specified 2012-02-09 criteria provided, single submitter clinical testing 7451+3G>A in intron 39 USH2A: This variant has not been reported in the literatu re nor previously identified by our laboratory. However, splice site prediction tools do not suggest an impact to splicing. Therefore, this variant is more like ly benign.
Counsyl RCV000667778 SCV000792282 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-13 criteria provided, single submitter clinical testing
Mendelics RCV000986529 SCV001135545 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter 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.