ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6621+29A>G

gnomAD frequency: 0.79509  dbSNP: rs3826633
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661284 SCV001876052 benign Vici syndrome 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001661285 SCV001881715 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487627 SCV004232795 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 96% of patients studied by a panel of primary immunodeficiencies. Number of patients: 91. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001661285 SCV005250082 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.