ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)

gnomAD frequency: 0.00010  dbSNP: rs765114036
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
GeneDx RCV000484662 SCV000570907 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Invitae RCV001088666 SCV000654119 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2023-12-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001088666 SCV004234603 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2023-04-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960129 SCV004776301 likely benign B4GAT1-related condition 2023-05-18 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.