ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.718G>A (p.Val240Met)

gnomAD frequency: 0.00011  dbSNP: rs72552401
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
Eurofins Ntd Llc (ga) RCV000728488 SCV000856067 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV001088314 SCV001006640 likely benign Alpha-1-antitrypsin deficiency 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953299 SCV004776988 likely benign SERPINA1-related disorder 2022-11-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.