ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.1945dup (p.Asp649fs)

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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 RCV003985946 SCV004801752 pathogenic Developmental and epileptic encephalopathy, 62 2024-03-22 criteria provided, single submitter clinical testing

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