ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)

gnomAD frequency: 0.00003  dbSNP: rs372301724
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
Genetic Services Laboratory, University of Chicago RCV000503750 SCV000595100 uncertain significance not specified 2016-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001399716 SCV001601512 likely benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-25 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.