ClinVar Miner

Submissions for variant NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=)

gnomAD frequency: 0.00134  dbSNP: rs147070468
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 RCV000437780 SCV000521812 benign not specified 2016-01-29 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 RCV000963462 SCV001110619 benign not provided 2024-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488829 SCV002801216 likely benign B4GALT1-congenital disorder of glycosylation 2022-04-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963462 SCV004157651 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing B4GALT1: BP4, BP7, BS2

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.