ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1439dup (p.Leu481fs)

dbSNP: rs1556857481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000590941 SCV000700158 likely pathogenic Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2017-01-30 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Hospital Essen RCV000590941 SCV002558883 pathogenic Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2022-07-30 criteria provided, single submitter clinical testing

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