ClinVar Miner

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

gnomAD frequency: 0.88879  dbSNP: rs4777502
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) 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 Laboratory Services,Illumina RCV000291094 SCV000393829 benign Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000675466 SCV000603952 benign not provided 2022-02-14 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
Invitae RCV000291094 SCV001729138 benign Tay-Sachs disease 2021-12-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000291094 SCV001737373 benign Tay-Sachs disease 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000675466 SCV001942890 benign not provided 2015-03-03 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 Laboratories,Mayo Clinic RCV000675466 SCV000801154 benign not provided 2017-05-18 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000079051 SCV001924108 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079051 SCV001956513 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000079051 SCV002037843 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000291094 SCV002085652 benign Tay-Sachs disease 2017-03-29 no assertion criteria provided clinical testing

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