ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)

gnomAD frequency: 0.00031  dbSNP: rs148136213
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
Eurofins Ntd Llc (ga) RCV000728314 SCV000855869 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing
Invitae RCV001088183 SCV001091915 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700453 SCV001919993 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000728314 SCV001964827 likely benign not provided no assertion criteria provided 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.