ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr)

dbSNP: rs115098969
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
Genetic Services Laboratory, University of Chicago RCV000500792 SCV000596995 likely benign not specified 2016-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000652121 SCV000773989 benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535621 SCV004733748 benign SDCCAG8-related disorder 2021-01-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV004711138 SCV005260484 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.