ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.948-84C>T

gnomAD frequency: 0.72706  dbSNP: rs6507894
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001542834 SCV001761217 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542835 SCV001761218 benign Laryngo-onycho-cutaneous syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543060 SCV001761557 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001707896 SCV001936541 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707896 SCV005251311 benign not provided criteria provided, single submitter not provided

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.