ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.15G>A (p.Arg5=)

gnomAD frequency: 0.00001  dbSNP: rs762559863
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
Eurofins Ntd Llc (ga) RCV000732646 SCV000860622 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001472943 SCV001677085 likely benign Neuronal ceroid lipofuscinosis 7 2023-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000732646 SCV001773457 likely benign not provided 2020-12-11 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.