ClinVar Miner

Submissions for variant NM_032793.5(MFSD2A):c.942C>T (p.Asn314=)

gnomAD frequency: 0.00057  dbSNP: rs147123833
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000924103 SCV001069608 likely benign not provided 2024-10-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818882 SCV002068269 uncertain significance not specified 2017-12-29 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.