ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.159C>T (p.Ser53=)

dbSNP: rs1245333229
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001394752 SCV001596442 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2023-11-20 criteria provided, single submitter clinical testing

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