ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.980+43_981del

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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 RCV002508167 SCV002558877 pathogenic Intellectual disability, X-linked 50 2022-07-30 criteria provided, single submitter clinical testing

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