ClinVar Miner

Submissions for variant NM_001372574.1(ATXN2):c.3043-12G>A

gnomAD frequency: 0.19844  dbSNP: rs2073950
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
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625505 SCV000745996 likely benign Spinocerebellar ataxia type 2 2015-10-05 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701137 SCV001918163 benign not specified 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.