ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) (rs201414567)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000132567 SCV000227046 uncertain significance not provided 2016-02-18 criteria provided, single submitter clinical testing
Invitae RCV001079675 SCV001021263 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-11-16 criteria provided, single submitter clinical testing
Mendelics RCV000989734 SCV001140278 benign Cone-rod dystrophy 6 2019-05-28 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132567 SCV000172505 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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.