ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=)

gnomAD frequency: 0.11446  dbSNP: rs56130505
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245070 SCV000302886 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000084852 SCV000971069 benign not provided 2018-04-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522238 SCV001731740 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000084852 SCV005251562 benign not provided criteria provided, single submitter not provided
Retina International RCV000084852 SCV000116988 not provided not provided no assertion provided 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.