ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7309C>G (p.Leu2437Val)

dbSNP: rs1564464665
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680096 SCV000807537 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with a pathogenic variant in an 8-year-old male with speech delay, regression, hypotonia, ataxia, progressive muscle weakness, fatigue

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.