ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln)

gnomAD frequency: 0.00004  dbSNP: rs199612856
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
Invitae RCV000908406 SCV001053163 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2024-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818806 SCV002066553 uncertain significance not specified 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958276 SCV004767662 likely benign POMGNT2-related condition 2022-08-09 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.