ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.975del (p.Tyr326fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Hospital Essen RCV002508169 SCV002558880 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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