ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.333G>A (p.Ser111=)

dbSNP: rs374518318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000899818 SCV001044106 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2019-04-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276100 SCV001461942 uncertain significance Glycogen storage disease, type IV 2020-04-22 no assertion criteria provided clinical testing

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