ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=)

gnomAD frequency: 0.00106  dbSNP: rs113315760
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516681 SCV000612883 likely benign not specified 2016-11-09 criteria provided, single submitter clinical testing
Invitae RCV001488392 SCV001692907 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000516681 SCV002069501 likely benign not specified 2018-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001488392 SCV004146735 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing COL18A1: BP4, BP7
Clinical Genetics, Academic Medical Center RCV000516681 SCV001917611 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001488392 SCV001967645 likely benign not provided no assertion criteria provided 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.