ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.379_380del (p.Cys127fs) (rs1207988953)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668069 SCV000792613 pathogenic Glycogen storage disease, type II 2017-07-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731154 SCV000858932 pathogenic not provided 2018-01-12 criteria provided, single submitter clinical testing

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