ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.535_538del (p.Leu179fs) (rs794727706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178792 SCV000230948 pathogenic not provided 2015-03-12 criteria provided, single submitter clinical testing
Counsyl RCV000984241 SCV001132328 likely pathogenic Glycogen storage disease type III 2014-08-16 no assertion criteria provided clinical testing

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