ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)

gnomAD frequency: 0.00005  dbSNP: rs782308530
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000548549 SCV000631385 benign Glucose-6-phosphate transport defect 2024-02-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139758 SCV003825697 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000548549 SCV001457674 uncertain significance Glucose-6-phosphate transport defect 2020-09-16 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.