ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.2016G>A (p.Glu672=)

gnomAD frequency: 0.00001  dbSNP: rs571448518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908293 SCV001053045 benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2024-12-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275619 SCV001460900 uncertain significance Glycogen storage disease, type IV 2020-02-13 no assertion criteria provided clinical testing

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