ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter)

dbSNP: rs2057771219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001201164 SCV001334293 pathogenic Seizure 2020-06-03 criteria provided, single submitter clinical testing Nonsense variant in a patient presenting water-sensitive epilepsy
Institute for Human Genetics, University Hospital Essen RCV002508156 SCV002558885 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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