ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1080G>A (p.Thr360=)

gnomAD frequency: 0.00031  dbSNP: rs200645261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720128 SCV000521853 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Invitae RCV000898474 SCV001042683 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2024-01-18 criteria provided, single submitter clinical testing

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