ClinVar Miner

Submissions for variant NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)

dbSNP: rs1644918844
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
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001290031 SCV001426224 pathogenic Global developmental delay; Motor delay; Feeding difficulties; EEG abnormality; Neurogenic bladder; Abnormality of vision; Abnormality of the skin; Abnormality of the respiratory system; Abnormality of speech or vocalization; Abnormality of temperature regulation; Hypotonia; Movement disorder 2020-07-01 criteria provided, single submitter research
Undiagnosed Diseases Network, NIH RCV001291033 SCV001736876 uncertain significance Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 2021-04-28 criteria provided, single submitter clinical testing
OMIM RCV001291033 SCV001479327 pathogenic Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 2021-02-11 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.