ClinVar Miner

Submissions for variant NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)

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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 RCV002468755 SCV002764809 likely pathogenic Epilepsy, familial focal, with variable foci 2 2020-12-21 criteria provided, single submitter clinical testing

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