ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)

dbSNP: rs773832380
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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 RCV001260859 SCV001437955 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Institute for Human Genetics, University Hospital Essen RCV000857300 SCV000999895 likely pathogenic Lamb-Shaffer syndrome 2019-08-05 no assertion criteria provided clinical testing

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