ClinVar Miner

Submissions for variant NM_000152.4(GAA):c.2780C>T (p.Thr927Ile) (rs1800315)

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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 RCV000078178 SCV000110016 benign not specified 2013-08-13 criteria provided, single submitter clinical testing
GeneDx RCV000078178 SCV000517803 benign not specified 2015-12-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000078178 SCV000151259 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 RCV000308857 SCV000407306 likely benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000308857 SCV000626601 benign Glycogen storage disease, type II 2017-08-08 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675250 SCV000800897 benign not provided 2017-05-17 no assertion criteria provided clinical testing
Phosphorus, Inc. RCV000308857 SCV000679768 benign Glycogen storage disease, type II 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078178 SCV000302685 benign not specified criteria provided, single submitter clinical testing

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