ClinVar Miner

Submissions for variant NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala)

dbSNP: rs1236176576
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
Invitae RCV000687637 SCV000815217 benign Creatine transporter deficiency 2023-06-01 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814218 SCV002061771 uncertain significance not provided 2021-12-17 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV001829900 SCV002084588 uncertain significance Creatine deficiency syndrome 1 2020-03-24 no assertion criteria provided 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.