ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)

gnomAD frequency: 0.00004  dbSNP: rs765130674
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
Fulgent Genetics, Fulgent Genetics RCV002486064 SCV002787872 uncertain significance 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 2021-08-05 criteria provided, single submitter clinical testing
Invitae RCV002541719 SCV003267608 likely benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279714 SCV001466833 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-08-14 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.