ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) (rs121918421)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092386 SCV001248873 likely pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
OMIM RCV000017430 SCV000037702 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 1998-08-01 no assertion criteria provided literature only

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