ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1722T>C (p.Leu574=)

gnomAD frequency: 0.00011  dbSNP: rs367905308
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000928083 SCV001073686 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275620 SCV001460901 likely benign Glycogen storage disease, type IV 2020-04-22 no assertion criteria provided clinical testing

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