ClinVar Miner

Submissions for variant NM_001041.4(SI):c.692C>G (p.Thr231Ser)

gnomAD frequency: 0.01059  dbSNP: rs79468450
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 RCV001511220 SCV001718427 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501759 SCV002808367 likely benign Sucrase-isomaltase deficiency 2021-07-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511220 SCV005306204 benign not provided criteria provided, single submitter not provided

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.