ClinVar Miner

Submissions for variant NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) (rs1800309)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078165 SCV000110003 benign not specified 2012-09-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078165 SCV000151253 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 RCV000383641 SCV000407290 likely benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000383641 SCV000752099 other Glycogen storage disease, type II 2019-01-07 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675237 SCV000800883 benign not provided 2015-12-16 no assertion criteria provided clinical testing
OMIM RCV000004245 SCV000024411 pathogenic Acid alpha-glucosidase, allele 4 1996-09-01 no assertion criteria provided literature only
Phosphorus, Inc. RCV000383641 SCV000679831 benign Glycogen storage disease, type II 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078165 SCV000302673 benign not specified criteria provided, single submitter clinical testing

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