ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.56dup (p.Leu20fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shaine Morris Lab, Baylor College of Medicine RCV003313763 SCV004012902 likely pathogenic Arterial tortuosity syndrome 2023-07-11 criteria provided, single submitter clinical testing Classified as "disease-causing" by laboratory report, interpreted as pathogenic based on local center clinical notes. Classified as likely pathogenic on VarSome. This variant for this particular patient meets ACMG criteria PVS1, PP4, and PM2. VarSome germline classification is 9 points (9 P - 0 B)

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.