ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)

gnomAD frequency: 0.00001  dbSNP: rs782753044
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 RCV000685266 SCV000812741 uncertain significance Glucose-6-phosphate transport defect 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499216 SCV002806892 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2022-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000685266 SCV002078552 uncertain significance Glucose-6-phosphate transport defect 2019-11-11 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.