ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)

gnomAD frequency: 0.00110  dbSNP: rs116118397
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 RCV000533534 SCV000656659 likely benign 3-methylglutaconic aciduria, type VIIB 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV002245016 SCV002513112 uncertain significance not provided 2022-12-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
CeGaT Center for Human Genetics Tuebingen RCV002245016 SCV004137233 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CLPB: BS1

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.