ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.287G>A (p.Trp96Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468715 SCV002764722 pathogenic Dystonia 5 2022-05-13 criteria provided, single submitter clinical testing

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