ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3809C>T (rs145068043)

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
Invitae RCV000935073 SCV001080812 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Biomedical Innovation Departament, CIEMAT RCV001352809 SCV001547304 pathogenic Dystrophic epidermolysis bullosa 2016-07-13 criteria provided, single submitter research
Natera, Inc. RCV001272615 SCV001454725 likely benign Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-01-04 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.