ClinVar Miner

Submissions for variant NM_032380.5(GFM2):c.43A>G (p.Ile15Val)

gnomAD frequency: 0.00818  dbSNP: rs79992455
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
GeneDx RCV000125239 SCV000168680 benign not specified 2013-12-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000894640 SCV001038637 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498603 SCV002808516 likely benign Combined oxidative phosphorylation deficiency 39 2022-03-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894640 SCV004011601 benign not provided 2024-07-01 criteria provided, single submitter clinical testing GFM2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000894640 SCV005302183 benign not provided criteria provided, single submitter not provided

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.