ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del)

dbSNP: rs886041062
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000258817 SCV002033785 pathogenic Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2021-03-29 criteria provided, single submitter clinical testing
Suma Genomics RCV000258817 SCV002062076 pathogenic Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 criteria provided, single submitter clinical testing
OMIM RCV004576939 SCV000328574 pathogenic Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 2016-11-14 no assertion criteria provided literature only

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.