ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1432G>A (p.Val478Ile)

gnomAD frequency: 0.00001  dbSNP: rs527819721
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796907 SCV000936442 likely benign Glycogen storage disease type III 2024-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000796907 SCV002790860 uncertain significance Glycogen storage disease type III 2022-02-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675326 SCV000800991 uncertain significance not provided 2018-01-09 no assertion criteria provided clinical testing
Natera, Inc. RCV000796907 SCV002091494 uncertain significance Glycogen storage disease type III 2019-10-28 no assertion criteria provided clinical testing

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