ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.229C>T (p.Leu77=)

gnomAD frequency: 0.00032  dbSNP: rs143807229
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434242 SCV000522341 likely benign not specified 2017-10-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000550593 SCV000631883 benign Isovaleryl-CoA dehydrogenase deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815325 SCV002063410 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing IVD: BP4, BP7
Natera, Inc. RCV000550593 SCV002094386 benign Isovaleryl-CoA dehydrogenase deficiency 2017-11-14 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.