ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.568G>A (p.Val190Met)

gnomAD frequency: 0.00011  dbSNP: rs200358025
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 RCV000721785 SCV000852924 uncertain significance not provided 2015-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067077 SCV002476404 likely benign Cerebral cavernous malformation 2 2024-07-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000721785 SCV004156863 benign not provided 2022-06-01 criteria provided, single submitter clinical testing CCM2: BS1, BS2

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.