ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.547-4T>G

gnomAD frequency: 0.00049  dbSNP: rs12080579
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242044 SCV000311547 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001459481 SCV001663320 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-11-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000242044 SCV002067715 uncertain significance not specified 2018-11-28 criteria provided, single submitter 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.