ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2621C>T (p.Ala874Val)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003484382 SCV004232049 uncertain significance Developmental and epileptic encephalopathy, 13 2024-01-19 criteria provided, single submitter clinical testing

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