ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3100-5G>A

gnomAD frequency: 0.00001  dbSNP: rs751822769
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001443939 SCV001646927 likely benign Osteogenesis imperfecta type I 2023-09-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000876691 SCV002563421 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing COL1A1: 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.