ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1907G>T (rs116005007)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594896 SCV000709482 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764512 SCV000895591 uncertain significance Recessive dystrophic epidermolysis bullosa; Pretibial epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nail disorder, nonsyndromic congenital, 8; Generalized dominant dystrophic epidermolysis bullosa 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000594896 SCV001110101 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001149289 SCV001310233 likely benign Dystrophic epidermolysis bullosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Biomedical Innovation Departament, CIEMAT RCV001149289 SCV001547289 likely benign Dystrophic epidermolysis bullosa 2019-01-28 criteria provided, single submitter research
Natera, Inc. RCV001273597 SCV001456755 benign Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-01-02 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.