ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=)

gnomAD frequency: 0.00002  dbSNP: rs745721191
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
Counsyl RCV000666326 SCV000790599 likely benign Glucose-6-phosphate transport defect 2017-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666326 SCV001676735 likely benign Glucose-6-phosphate transport defect 2024-01-28 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.