ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)

gnomAD frequency: 0.88882  dbSNP: rs1800431
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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) RCV000079049 SCV000110918 benign not specified 2017-09-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079049 SCV000304638 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000283218 SCV000393832 benign Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000675467 SCV000603953 benign not provided 2022-02-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000675467 SCV000889383 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000675467 SCV001000167 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Invitae RCV000283218 SCV001729139 benign Tay-Sachs disease 2021-12-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000283218 SCV001737374 benign Tay-Sachs disease 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000675467 SCV001942887 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079049 SCV000151386 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 RCV000283218 SCV000733466 benign Tay-Sachs disease no assertion criteria provided clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000675467 SCV000801155 benign not provided 2015-10-23 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000079049 SCV001924001 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079049 SCV001954950 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000079049 SCV002038206 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000283218 SCV002085669 benign Tay-Sachs disease 2017-03-29 no assertion criteria provided clinical testing

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