ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics RCV001293788 SCV001482487 pathogenic Glycogen storage disease type III 2019-08-04 criteria provided, single submitter clinical testing disease causing

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