ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.1470A>G (p.Glu490=)

gnomAD frequency: 0.00828  dbSNP: rs79393011
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124756 SCV000168195 benign not specified 2013-12-17 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.
Preventiongenetics, part of Exact Sciences RCV000124756 SCV000311816 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000676347 SCV001015832 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000676347 SCV002049549 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676347 SCV004033194 benign not provided 2023-11-01 criteria provided, single submitter clinical testing DNM1L: BP4, BP7, BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000676347 SCV000802120 benign not provided 2017-08-07 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.