ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) (rs144250390)

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
Genetic Services Laboratory, University of Chicago RCV000145912 SCV000193049 uncertain significance Peripheral neuropathy 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120647 SCV000227176 likely benign not specified 2014-12-16 criteria provided, single submitter clinical testing
Invitae RCV000199355 SCV000252733 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Center for Genetic Medicine Research,Children's National Medical Center RCV000120647 SCV000265817 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
GeneDx RCV000120647 SCV000722387 benign not specified 2017-03-02 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.
ITMI RCV000120647 SCV000084808 not provided not specified 2013-09-19 no assertion provided reference population

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.