ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.2002-5T>A

gnomAD frequency: 0.00001  dbSNP: rs201718705
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001278801 SCV002460012 likely benign Glycogen storage disease type III 2024-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278801 SCV001465841 uncertain significance Glycogen storage disease type III 2020-08-13 no assertion criteria provided clinical testing

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