ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2417C>T (p.Thr806Met) (rs139850074)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000238987 SCV000296876 uncertain significance not specified 2015-10-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725668 SCV000338490 uncertain significance not provided 2016-01-23 criteria provided, single submitter clinical testing
Invitae RCV000542072 SCV000626569 likely benign Glycogen storage disease, type II 2020-12-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725668 SCV001502250 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000725668 SCV001767605 uncertain significance not provided 2020-08-11 criteria provided, single submitter clinical testing Reported previously as part of a thesis project of genetic variation identified among healthy Armenian individuals through exome sequencing (Akopyan, 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Nilou-Genome Lab RCV000542072 SCV001810193 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000542072 SCV001455441 uncertain significance Glycogen storage disease, type II 2020-01-17 no assertion criteria provided clinical testing

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