ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.314-35A>G

gnomAD frequency: 0.46706  dbSNP: rs2071219
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
PreventionGenetics, part of Exact Sciences RCV000249741 SCV000301536 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999924 SCV000602393 benign Telangiectasia, hereditary hemorrhagic, type 2 2022-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000999924 SCV001716885 benign Telangiectasia, hereditary hemorrhagic, type 2 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001538910 SCV001756626 benign not provided 2018-06-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16179574, 16776339, 25847705)
Genome-Nilou Lab RCV000999924 SCV001768978 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001538910 SCV005228896 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.