ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.107-12541A>G

gnomAD frequency: 0.00090  dbSNP: rs200354859
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 RCV001514869 SCV001722823 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001514869 SCV004146713 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing COL18A1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001514869 SCV005277185 benign 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.