ClinVar Miner

Submissions for variant NM_198241.3(EIF4G1):c.3953+9A>G

gnomAD frequency: 0.80145  dbSNP: rs939317
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 RCV001653952 SCV001863690 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653952 SCV005304572 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606273 SCV000734257 benign Parkinson disease 18, autosomal dominant, susceptibility to no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579844 SCV001808689 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579844 SCV001969339 benign not specified 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.