ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)

dbSNP: rs869025321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000207472 SCV000992838 pathogenic Lamb-Shaffer syndrome 2017-12-31 criteria provided, single submitter clinical testing
OMIM RCV000207472 SCV000262751 pathogenic Lamb-Shaffer syndrome 2016-02-12 no assertion criteria provided literature only

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