ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)

gnomAD frequency: 0.00002  dbSNP: rs377763372
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 RCV002537786 SCV003472123 likely benign not provided 2024-05-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278187 SCV001465183 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-06-12 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.