ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)

dbSNP: rs747527726
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
Invitae RCV001414607 SCV001616746 likely benign Cobalamin C disease 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001414607 SCV002799449 likely benign Cobalamin C disease 2022-04-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001414607 SCV004178209 likely benign Cobalamin C disease 2023-04-11 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.