ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.5125C>T (p.Arg1709Cys)

dbSNP: rs1361597066
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244222 SCV002512605 uncertain significance Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2022-02-08 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, PP3 supporting

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.