ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)

dbSNP: rs200882719
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 RCV001487694 SCV001692190 likely benign not provided 2023-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493487 SCV002795922 likely benign Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 2021-07-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278989 SCV001466044 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-19 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.