ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV002444369 SCV002754428 likely pathogenic Glycogen storage disease, type VI 2022-11-21 criteria provided, single submitter clinical testing

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