ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1629C>T (p.Tyr543=) (rs372193105)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730586 SCV000720968 likely benign not provided 2018-06-11 criteria provided, single submitter clinical testing
Invitae RCV001081315 SCV000752112 likely benign Glycogen storage disease, type II 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730586 SCV000858334 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001081315 SCV001810618 likely benign Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing

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