ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys)

dbSNP: rs1942462618
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262570 SCV001440492 likely pathogenic Lamb-Shaffer syndrome 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as de novo.

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