ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)

gnomAD frequency: 0.00116  dbSNP: rs192877602
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085622 SCV001122583 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-11-27 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252209 SCV002523634 uncertain significance See cases 2020-04-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000675502 SCV000801192 uncertain significance not provided 2017-04-17 no assertion criteria provided clinical testing
Natera, Inc. RCV001275618 SCV001460898 uncertain significance Glycogen storage disease, type IV 2020-01-24 no assertion criteria provided clinical testing

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