ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)

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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 RCV002468782 SCV002764875 likely pathogenic Developmental and epileptic encephalopathy, 13 2021-02-25 criteria provided, single submitter clinical testing

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