ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.340A>G (p.Arg114Gly)

gnomAD frequency: 0.00001  dbSNP: rs760804604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260870 SCV001437966 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Hospital Essen RCV002508158 SCV002558873 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2022-07-30 criteria provided, single submitter clinical testing

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