ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.990C>T (p.Ser330=)

gnomAD frequency: 0.00027  dbSNP: rs371194644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000942094 SCV001088008 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276099 SCV001461938 uncertain significance Glycogen storage disease, type IV 2020-03-11 no assertion criteria provided clinical testing

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