ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8304+1G>A

dbSNP: rs759579761
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
Biomedical Innovation Departament, CIEMAT RCV001352717 SCV001547394 pathogenic Epidermolysis bullosa dystrophica 2009-05-25 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002499656 SCV002794625 likely pathogenic 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 2021-11-05 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003135992 SCV003807499 likely pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-04 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated

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.