ClinVar Miner

Submissions for variant NC_000015.9:g.68504037_68504039delGAT (rs121908080)

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
Counsyl RCV000004298 SCV000794168 likely pathogenic Ceroid lipofuscinosis neuronal 6 2017-09-18 criteria provided, single submitter clinical testing
Mendelics RCV000989354 SCV001139645 pathogenic Neuronal ceroid lipofuscinosis 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000004298 SCV000024464 pathogenic Ceroid lipofuscinosis neuronal 6 2003-05-01 no assertion criteria provided literature only
GeneReviews RCV000004298 SCV000086974 pathologic Ceroid lipofuscinosis neuronal 6 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism RCV000004298 SCV000804305 pathogenic Ceroid lipofuscinosis neuronal 6 no assertion criteria provided research Late Infantile NCL

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.