ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.915C>T (p.Ile305=)

gnomAD frequency: 0.00009  dbSNP: rs371251483
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001405699 SCV001607637 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001405699 SCV002808961 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-05-12 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.