ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2446G>A (p.Val816Ile) (rs1800314)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078172 SCV000110010 benign not specified 2013-08-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078172 SCV000151256 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.
Illumina Clinical Services Laboratory,Illumina RCV000296830 SCV000407300 likely benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675246 SCV000800893 benign not provided 2017-05-17 no assertion criteria provided clinical testing
Phosphorus, Inc. RCV000296830 SCV000679767 benign Glycogen storage disease, type II 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078172 SCV000302680 benign not specified criteria provided, single submitter clinical testing

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