ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.955+60A>G

gnomAD frequency: 0.75289  dbSNP: rs12632196
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 RCV000837695 SCV000979555 benign not provided 2018-06-19 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.
Pars Genome Lab RCV001527558 SCV001738648 benign Infantile GM1 gangliosidosis 2021-06-15 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527559 SCV001738649 benign Mucopolysaccharidosis, MPS-IV-B 2021-06-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000837695 SCV005245077 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.