ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.1414G>A (p.Gly472Arg)

gnomAD frequency: 0.00040  dbSNP: rs72552271
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
Genetic Services Laboratory, University of Chicago RCV000193787 SCV000248886 uncertain significance not specified 2015-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054429 SCV002403856 benign not provided 2023-12-25 criteria provided, single submitter clinical testing
OMIM RCV000009470 SCV000029688 pathogenic Metabolic myopathy due to lactate transporter defect 2000-01-01 no assertion criteria provided literature only

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.