ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=)

gnomAD frequency: 0.01714  dbSNP: rs34871377
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128144 SCV000171736 benign not specified 2014-04-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000128144 SCV000306908 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000560550 SCV000631380 benign Glucose-6-phosphate transport defect 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708055 SCV005235110 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000560550 SCV001452595 benign 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.