ClinVar Miner

Submissions for variant NR_033294.2(SNORD118):n.3C>T

dbSNP: rs117735243
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
Undiagnosed Diseases Network, NIH RCV000626026 SCV000746638 uncertain significance Leukoencephalopathy with calcifications and cysts 2018-03-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815353 SCV002063570 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SNORD118: BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV001815353 SCV002408300 benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine RCV000626026 SCV001364135 pathogenic Leukoencephalopathy with calcifications and cysts 2020-04-06 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.