ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.483+8C>T

gnomAD frequency: 0.00102  dbSNP: rs201193446
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000897411 SCV001041554 benign not provided 2024-12-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000897411 SCV005409803 uncertain significance not provided 2023-07-19 criteria provided, single submitter clinical testing BS1
CeGaT Center for Human Genetics Tuebingen RCV000897411 SCV005891354 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing CCDC88C: BP4

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.