ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.21C>T (p.Val7=)

gnomAD frequency: 0.00093  dbSNP: rs149388535
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
Invitae RCV000872129 SCV001013900 benign ALG1-congenital disorder of glycosylation 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001571704 SCV001796223 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000872129 SCV002810104 likely benign ALG1-congenital disorder of glycosylation 2021-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930392 SCV004740031 likely benign ALG1-related disorder 2019-09-17 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.