ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His)

gnomAD frequency: 0.00021  dbSNP: rs142885301
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
Genetic Services Laboratory, University of Chicago RCV000195074 SCV000249376 uncertain significance not specified 2015-06-04 criteria provided, single submitter clinical testing
GeneDx RCV001762412 SCV001990440 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35668055)
Revvity Omics, Revvity RCV003137778 SCV003820408 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2020-03-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001762412 SCV005409576 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing PP3, PM2

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.