ClinVar Miner

Submissions for variant NM_020893.6(CCDC180):c.2935C>T (p.Arg979Trp)

gnomAD frequency: 0.00319  dbSNP: rs183800704
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
Brain Center Rudolf Magnus, University Medical Center Utrecht RCV001731001 SCV001980679 uncertain significance Mycotic Aneurysm, Intracranial 2021-10-08 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV003426188 SCV004158406 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CCDC180: BS2
Breakthrough Genomics, Breakthrough Genomics RCV003426188 SCV005195479 uncertain significance not provided criteria provided, single submitter not provided

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.