ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.1107A>G (p.Leu369=)

gnomAD frequency: 0.00003  dbSNP: rs533632273
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
Invitae RCV000456643 SCV000563180 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000456643 SCV001813564 likely benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457705 SCV004178398 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970364 SCV004786844 likely benign SZT2-related condition 2019-02-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.