ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.462T>C (p.Phe154=)

gnomAD frequency: 0.00009  dbSNP: rs199747998
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000913757 SCV001058913 likely benign Cobalamin C disease 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000913757 SCV002798462 likely benign Cobalamin C disease 2021-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000913757 SCV004178180 likely benign Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977991 SCV004795020 likely benign MMACHC-related condition 2019-02-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001273226 SCV001456018 likely benign Methylmalonic acidemia with homocystinuria cblC 2020-09-16 no assertion criteria provided 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.