ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.369-6A>G

dbSNP: rs201483866
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238928 SCV000296970 likely benign not specified 2015-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872008 SCV001013753 benign ALG8 congenital disorder of glycosylation 2024-11-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480572 SCV004226213 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541473 SCV004781306 likely benign ALG8-related disorder 2023-02-07 no assertion criteria provided 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.