ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.626-53C>T

gnomAD frequency: 0.02158  dbSNP: rs111245531
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506640 SCV000602402 benign Telangiectasia, hereditary hemorrhagic, type 2 2019-06-27 criteria provided, single submitter clinical testing
GeneDx RCV001618716 SCV001845747 benign not provided 2018-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000506640 SCV002524591 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618716 SCV005228900 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.