ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.486+1G>A (rs756522171)

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
Counsyl RCV000671252 SCV000796209 likely pathogenic Neuronal ceroid lipofuscinosis 6 2017-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719064 SCV000849928 likely pathogenic Seizures 2016-11-02 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without splicing assay data in support of pathogenicity;Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes) ;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species

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.