ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1518A>G (p.Glu506=) (rs4777502)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079051 SCV000110920 benign not specified 2015-06-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079051 SCV000304640 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291094 SCV000393829 benign Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079051 SCV000603952 benign not specified 2018-08-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000675466 SCV000889384 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000675466 SCV001000166 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079051 SCV000151387 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000291094 SCV000733465 benign Tay-Sachs disease no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675466 SCV000801154 benign not provided 2017-05-18 no assertion criteria provided clinical testing

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.