ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.659-43C>A

gnomAD frequency: 0.49314  dbSNP: rs1558064
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
PreventionGenetics, part of Exact Sciences RCV000242683 SCV000308679 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636769 SCV001848060 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701963 SCV001933723 benign Charcot-Marie-Tooth disease type 2D 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702392 SCV001933724 benign Neuronopathy, distal hereditary motor, type 5A 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701964 SCV001933725 benign Spinal muscular atrophy, infantile, James type 2021-08-10 criteria provided, single submitter 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.