ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)

gnomAD frequency: 0.71214  dbSNP: rs3743979
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514024 SCV001721765 benign Combined malonic and methylmalonic acidemia 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001514024 SCV001750410 benign Combined malonic and methylmalonic acidemia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001713077 SCV001944218 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713077 SCV005253109 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001279231 SCV001466314 benign Methylmalonic acidemia 2020-05-01 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529500 SCV001743057 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529500 SCV001957875 benign not specified 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.