ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.321= (p.Glu107=)

gnomAD frequency: 0.53906  dbSNP: rs291396
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248064 SCV000316179 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248064 SCV000724584 benign not specified 2017-11-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001519824 SCV001728763 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001519824 SCV001775190 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713460 SCV005287090 benign not provided criteria provided, single submitter not provided

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.