ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.697C>T (p.Leu233=)

gnomAD frequency: 0.00004  dbSNP: rs142330967
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001500461 SCV001705249 likely benign Neuronal ceroid lipofuscinosis 2022-10-07 criteria provided, single submitter clinical testing
GeneDx RCV000868179 SCV001873000 uncertain significance not provided 2021-02-24 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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.