ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) (rs1800431)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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 Clinical Services Laboratory,Illumina RCV000283218 SCV000393832 benign Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079049 SCV000603953 benign not specified 2018-08-09 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
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 Genetic Testing Laboratories,Mayo Clinic RCV000675467 SCV000801155 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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