ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.1260G>A (p.Glu420=)

gnomAD frequency: 0.00136  dbSNP: rs2304691
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721769 SCV000852906 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Invitae RCV000872111 SCV001013879 benign Cerebral cavernous malformation 2 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000872111 SCV002047974 benign Cerebral cavernous malformation 2 2021-11-03 criteria provided, single submitter 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.