ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=)

gnomAD frequency: 0.01492  dbSNP: rs56316238
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000877846 SCV001020645 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001786420 SCV001157152 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001786420 SCV002028469 likely benign not provided 2021-02-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001786420 SCV005218695 likely benign not provided criteria provided, single submitter not provided

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.