ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His)

dbSNP: rs796052988
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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 RCV002276250 SCV002559906 likely pathogenic Severe myoclonic epilepsy in infancy 2022-08-15 criteria provided, single submitter clinical testing

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