ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)

dbSNP: rs1592099852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000857293 SCV001528663 pathogenic Lamb-Shaffer syndrome 2024-02-19 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Hospital Essen RCV000857293 SCV000999887 pathogenic Lamb-Shaffer syndrome 2019-08-05 no assertion criteria provided clinical testing
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University RCV000857293 SCV004030253 uncertain significance Lamb-Shaffer syndrome no assertion criteria provided clinical testing

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