ClinVar Miner

Submissions for variant NM_001041.4(SI):c.2074C>T (p.Arg692Cys)

gnomAD frequency: 0.00005  dbSNP: rs371618948
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814768 SCV002061576 uncertain significance not provided 2021-10-04 criteria provided, single submitter clinical testing PM2
Fulgent Genetics, Fulgent Genetics RCV002489860 SCV002788376 uncertain significance Sucrase-isomaltase deficiency 2021-10-27 criteria provided, single submitter 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.