ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)

gnomAD frequency: 0.00002  dbSNP: rs757297254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001443953 SCV001646943 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2020-09-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277705 SCV001464672 uncertain significance Glycogen storage disease, type IV 2020-08-14 no assertion criteria provided clinical testing

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