ClinVar Miner

Submissions for variant NM_001001344.3(ATP2B3):c.2326+11C>T

gnomAD frequency: 0.95109  dbSNP: rs3020957
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000604491 SCV001774962 benign X-linked progressive cerebellar ataxia 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001595025 SCV001829101 benign not provided 2020-03-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001595025 SCV005274877 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604491 SCV000734752 benign X-linked progressive cerebellar ataxia no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727781 SCV001971667 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.