ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.898_899del (p.Glu300fs)

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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 RCV002468785 SCV002764879 pathogenic Myoclonic dystonia 11 2022-01-18 criteria provided, single submitter clinical testing

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