ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.856-2A>G

dbSNP: rs757101344
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668569 SCV000793194 uncertain significance Junctional epidermolysis bullosa gravis of Herlitz 2017-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499164 SCV002780373 uncertain significance Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 2021-11-17 criteria provided, single submitter 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.