ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3249A>C (p.Thr1083=)

gnomAD frequency: 0.00871  dbSNP: rs80241480
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
Invitae RCV000534829 SCV000655732 benign Luscan-Lumish syndrome 2024-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001287944 SCV001474714 benign not specified 2019-11-08 criteria provided, single submitter clinical testing
GeneDx RCV001549972 SCV001770219 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001287944 SCV002071050 benign not specified 2018-10-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000534829 SCV002553647 benign Luscan-Lumish syndrome 2022-03-15 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.