ClinVar Miner

Submissions for variant NM_001493.3(GDI1):c.193T>A (p.Ser65Thr)

dbSNP: rs1557198307
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
Genetic Services Laboratory, University of Chicago RCV000503006 SCV000594968 uncertain significance not specified 2016-09-07 criteria provided, single submitter clinical testing
3billion RCV004730962 SCV005329081 likely benign Intellectual disability, X-linked 41; Immunodeficiency 47 2024-09-20 criteria provided, single submitter clinical testing The hemizygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the hemizygous variant.

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.